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{{Infobox_gene}}
{{Infobox_gene}}
'''Oligophrenin-1''' is a [[protein]] that in humans is encoded by the ''OPHN1'' [[gene]].<ref name="pmid9195162">{{cite journal |vauthors=Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D | title = Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation | journal = Eur J Hum Genet | volume = 5 | issue = 2 | pages = 105–9 |date=Aug 1997 | pmid = 9195162 | pmc =  | doi =  }}</ref><ref name="pmid9582072">{{cite journal |vauthors=Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J | title = Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation | journal = Nature | volume = 392 | issue = 6679 | pages = 923–6 |date=May 1998 | pmid = 9582072 | pmc =  | doi = 10.1038/31940 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OPHN1 oligophrenin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4983| accessdate = }}</ref>
'''Oligophrenin-1''' is a [[protein]] that in humans is encoded by the ''OPHN1'' [[gene]].<ref name="pmid9195162">{{cite journal | vauthors = Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D | title = Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation | journal = European Journal of Human Genetics | volume = 5 | issue = 2 | pages = 105–9 | date = Aug 1997 | pmid = 9195162 | pmc =  | doi =  }}</ref><ref name="pmid9582072">{{cite journal | vauthors = Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J | title = Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation | journal = Nature | volume = 392 | issue = 6679 | pages = 923–6 | date = April 1998 | pmid = 9582072 | pmc =  | doi = 10.1038/31940 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: OPHN1 oligophrenin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4983| access-date = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
| section_title =  
| summary_text = Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation), particularly. in association with hypoplastic cerebellar features and commonly congenital strabismus<ref name="entrez" />
}}


In 2014 [http://www.OPHN1.org www.OPHN1.org] was formed as a patient advocacy and disease community group.
Oligophrenin 1 has 25 exons and encodes a Rho-[[GTPase-activating protein]]. The [[Rho family of GTPases|Rho protein]] are important mediators of intracellular [[signal transduction]], which affects [[cell migration]] and cell [[morphogenesis]].


==References==
== Clinical significance ==
{{reflist}}


==Further reading==
Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation).<ref name="entrez" />
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  |vauthors=Castellví-Bel S, Milà M |title=Genes responsible for nonspecific mental retardation |journal=Mol. Genet. Metab. |volume=72 |issue= 2 |pages= 104–8 |year= 2001 |pmid= 11161835 |doi= 10.1006/mgme.2000.3128 }}
*{{cite journal  | author=Ramakers GJ |title=Rho proteins, mental retardation and the cellular basis of cognition |journal=Trends Neurosci. |volume=25 |issue= 4 |pages= 191–9 |year= 2002 |pmid= 11998687 |doi=10.1016/S0166-2236(00)02118-4  }}
*{{cite journal  | author=Bergmann C |title=Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia |journal=Brain |volume=126 |issue= Pt 7 |pages= 1537–44 |year= 2003 |pmid= 12805098 |doi= 10.1093/brain/awg173  |name-list-format=vanc| author2=Zerres K  | author3=Senderek J  | display-authors=3  | last4=Rudnik-Schoneborn  | first4=S  | last5=Eggermann  | first5=T  | last6=Häusler  | first6=M  | last7=Mull  | first7=M  | last8=Ramaekers  | first8=VT }}
*{{cite journal  | author=Tentler D |title=Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia |journal=Eur. J. Hum. Genet. |volume=7 |issue= 5 |pages= 541–8 |year= 1999 |pmid= 10439959 |doi= 10.1038/sj.ejhg.5200320  |name-list-format=vanc| author2=Gustavsson P  | author3=Leisti J  | display-authors=3  | last4=Schueler  | first4=M  | last5=Chelly  | first5=J  | last6=Timonen  | first6=E  | last7=Annerén  | first7=G  | last8=Willard  | first8=H F  | last9=Dahl  | first9=N }}
*{{cite journal  | author=Billuart P |title=Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation |journal=Ann. Genet. |volume=43 |issue= 1 |pages= 5–9 |year= 2000 |pmid= 10818214 |doi=10.1016/S0003-3995(00)00015-0  |name-list-format=vanc| author2=Chelly J  | author3=Carrié A  | display-authors=3  | last4=Vinet  | first4=M  | last5=Couvert  | first5=P  | last6=McDonell  | first6=N  | last7=Zemni  | first7=R  | last8=Kahn  | first8=A  | last9=Moraine  | first9=C  }}
*{{cite journal  | author=Pinheiro NA |title=Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis |journal=Cancer Lett. |volume=172 |issue= 1 |pages= 67–73 |year= 2001 |pmid= 11595131 |doi=10.1016/S0304-3835(01)00625-5  |name-list-format=vanc| author2=Caballero OL  | author3=Soares F  | display-authors=3  | last4=Reis  | first4=Luis F.L  | last5=Simpson  | first5=Andrew John George  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  |vauthors=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281–9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
*{{cite journal  | author=Philip N |title=Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia |journal=J. Med. Genet. |volume=40 |issue= 6 |pages= 441–6 |year= 2003 |pmid= 12807966 |doi=10.1136/jmg.40.6.441  | pmc=1735502  |name-list-format=vanc| author2=Chabrol B  | author3=Lossi AM  | display-authors=3  | last4=Cardoso  | first4=C  | last5=Guerrini  | first5=R  | last6=Dobyns  | first6=WB  | last7=Raybaud  | first7=C  | last8=Villard  | first8=L  }}
*{{cite journal  |vauthors=Xiao J, Neylon CB, Nicholson GA, Furness JB |title=Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin |journal=Neuroscience |volume=124 |issue= 4 |pages= 781–7 |year= 2004 |pmid= 15026118 |doi= 10.1016/j.neuroscience.2004.01.007 }}
*{{cite journal  | author=Ross MT |title=The DNA sequence of the human X chromosome |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440  | pmc=2665286  |name-list-format=vanc| author2=Grafham DV  | author3=Coffey AJ  | display-authors=3  | last4=Scherer  | first4=Steven  | last5=McLay  | first5=Kirsten  | last6=Muzny  | first6=Donna  | last7=Platzer  | first7=Matthias  | last8=Howell  | first8=Gareth R.  | last9=Burrows  | first9=Christine }}
*{{cite journal  | author=Zanni G |title=Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia |journal=Neurology |volume=65 |issue= 9 |pages= 1364–9 |year= 2006 |pmid= 16221952 |doi= 10.1212/01.wnl.0000182813.94713.ee  |name-list-format=vanc| author2=Saillour Y  | author3=Nagara M  | display-authors=3  | last4=Billuart  | first4=P  | last5=Castelnau  | first5=L  | last6=Moraine  | first6=C  | last7=Faivre  | first7=L  | last8=Bertini  | first8=E  | last9=Durr  | first9=A }}
}}
{{refend}}


<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance ([[cerebellum]]). The syndrome mainly affects males. It is characterized by low muscle tone ([[hypotonia]]), developmental and cognitive delay, early-onset seizures, abnormal behavior, characteristic facial features (long face, bulging forehead, under eye creases, deep set eyes, and large ears), crossed eyes (strabismus) and inability to coordinate movements.<ref name="Zanni_2011">{{cite journal | vauthors = Zanni G, Bertini ES | title = X-linked disorders with cerebellar dysgenesis | journal = Orphanet Journal of Rare Diseases | volume = 6 | issue = | pages = 24 | date = May 2011 | pmid = 21569638 | pmc = 3115841 | doi = 10.1186/1750-1172-6-24 | url = }}</ref>
{{PBB_Controls
<ref>{{cite journal | title = OPHN1 | journal = Genetics Home Reference | year = 2016 | url =  https://ghr.nlm.nih.gov/gene/OPHN1#conditions }}</ref>  A small cerebellum and large ventricles can be seen on brain imaging (MRI).<ref name="Zanni_2011" /><ref>{{cite web | first = Ginevra | last = Zanni | title = X-linked intellectual disability-cerebellar hypoplasia syndrome. | work = Orphanet | date = February 2013 | url = http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831. }}</ref><ref name="pmid18512229">{{cite journal | vauthors = Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F | title = Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene | journal = American Journal of Medical Genetics. Part A | volume = 146A | issue = 13 | pages = 1718–24 | date = July 2008 | pmid = 18512229 | doi = 10.1002/ajmg.a.32365 }}</ref> Treatment is supportive and includes physical, occupational and speech and language therapy.<ref>{{cite web | title = OPHN1 therapies | work = Oligophrenin-1 Syndrome Foundation | url = http://ophn1.org/ophn1-therapies }}</ref>
| update_page = yes
| require_manual_inspection = no
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}}


In 2014 [http://www.OPHN1.org www.OPHN1.org] was formed as a patient advocacy and disease community group.
OPHN1 syndrome is caused by mutations in the OPHN1 gene, which is located on the  X chromosome. Inheritance is X-linked.<ref name="Zanni_2011" /> Some females who carry a mutation in the OPHN1 gene may have mild learning disabilities, mild cognitive impairment, strabismus, and subtle facial changes.<ref name="entrez" />


== References ==
{{reflist}}
{{clear}}
== Further reading ==
{{refbegin|32em}}
* {{cite journal | vauthors = Castellví-Bel S, Milà M | title = Genes responsible for nonspecific mental retardation | journal = Molecular Genetics and Metabolism | volume = 72 | issue = 2 | pages = 104–8 | date = February 2001 | pmid = 11161835 | doi = 10.1006/mgme.2000.3128 }}
* {{cite journal | vauthors = Ramakers GJ | title = Rho proteins, mental retardation and the cellular basis of cognition | journal = Trends in Neurosciences | volume = 25 | issue = 4 | pages = 191–9 | date = April 2002 | pmid = 11998687 | doi = 10.1016/S0166-2236(00)02118-4 }}
* {{cite journal | vauthors = Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT | title = Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia | journal = Brain | volume = 126 | issue = Pt 7 | pages = 1537–44 | date = July 2003 | pmid = 12805098 | doi = 10.1093/brain/awg173 }}
* {{cite journal | vauthors = Tentler D, Gustavsson P, Leisti J, Schueler M, Chelly J, Timonen E, Annerén G, Willard HF, Dahl N | title = Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia | journal = European Journal of Human Genetics | volume = 7 | issue = 5 | pages = 541–8 | date = July 1999 | pmid = 10439959 | doi = 10.1038/sj.ejhg.5200320 }}
* {{cite journal | vauthors = Billuart P, Chelly J, Carrié A, Vinet M, Couvert P, McDonell N, Zemni R, Kahn A, Moraine C, Beldjord C, Bienvenu T | title = Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation | journal = Annales de Genetique | volume = 43 | issue = 1 | pages = 5–9 | year = 2000 | pmid = 10818214 | doi = 10.1016/S0003-3995(00)00015-0 }}
* {{cite journal | vauthors = Pinheiro NA, Caballero OL, Soares F, Reis LF, Simpson AJ | title = Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis | journal = Cancer Letters | volume = 172 | issue = 1 | pages = 67–73 | date = October 2001 | pmid = 11595131 | doi = 10.1016/S0304-3835(01)00625-5 }}
* {{cite journal | vauthors = Kitano T, Schwarz C, Nickel B, Pääbo S | title = Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees | journal = Molecular Biology and Evolution | volume = 20 | issue = 8 | pages = 1281–9 | date = August 2003 | pmid = 12777533 | doi = 10.1093/molbev/msg134 }}
* {{cite journal | vauthors = Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L | title = Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia | journal = Journal of Medical Genetics | volume = 40 | issue = 6 | pages = 441–6 | date = June 2003 | pmid = 12807966 | pmc = 1735502 | doi = 10.1136/jmg.40.6.441 }}
* {{cite journal | vauthors = Xiao J, Neylon CB, Nicholson GA, Furness JB | title = Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin | journal = Neuroscience | volume = 124 | issue = 4 | pages = 781–7 | year = 2004 | pmid = 15026118 | doi = 10.1016/j.neuroscience.2004.01.007 }}
* {{cite journal | vauthors = Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J | title = Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia | journal = Neurology | volume = 65 | issue = 9 | pages = 1364–9 | date = November 2005 | pmid = 16221952 | doi = 10.1212/01.wnl.0000182813.94713.ee }}
{{refend}}


{{Include-NIH|url=https://rarediseases.info.nih.gov/diseases/13093/ophn1-syndrome|title = OPHN1 syndrome}}
{{gene-X-stub}}
{{gene-X-stub}}

Latest revision as of 14:01, 5 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.[1][2][3]

Function

Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho protein are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis.

Clinical significance

Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation).[3]

OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance (cerebellum). The syndrome mainly affects males. It is characterized by low muscle tone (hypotonia), developmental and cognitive delay, early-onset seizures, abnormal behavior, characteristic facial features (long face, bulging forehead, under eye creases, deep set eyes, and large ears), crossed eyes (strabismus) and inability to coordinate movements.[4] [5] A small cerebellum and large ventricles can be seen on brain imaging (MRI).[4][6][7] Treatment is supportive and includes physical, occupational and speech and language therapy.[8]

OPHN1 syndrome is caused by mutations in the OPHN1 gene, which is located on the X chromosome. Inheritance is X-linked.[4] Some females who carry a mutation in the OPHN1 gene may have mild learning disabilities, mild cognitive impairment, strabismus, and subtle facial changes.[3]

References

  1. ↑ Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". European Journal of Human Genetics. 5 (2): 105–9. PMID 9195162.
  2. ↑ Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (April 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: OPHN1 oligophrenin 1".
  4. ↑ 4.0 4.1 4.2 Zanni G, Bertini ES (May 2011). "X-linked disorders with cerebellar dysgenesis". Orphanet Journal of Rare Diseases. 6: 24. doi:10.1186/1750-1172-6-24. PMC 3115841. PMID 21569638.
  5. ↑ "OPHN1". Genetics Home Reference. 2016.
  6. ↑ Zanni, Ginevra (February 2013). "X-linked intellectual disability-cerebellar hypoplasia syndrome". Orphanet.
  7. ↑ Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F (July 2008). "Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene". American Journal of Medical Genetics. Part A. 146A (13): 1718–24. doi:10.1002/ajmg.a.32365. PMID 18512229.
  8. ↑ "OPHN1 therapies". Oligophrenin-1 Syndrome Foundation.

Further reading

  • Castellví-Bel S, Milà M (February 2001). "Genes responsible for nonspecific mental retardation". Molecular Genetics and Metabolism. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835.
  • Ramakers GJ (April 2002). "Rho proteins, mental retardation and the cellular basis of cognition". Trends in Neurosciences. 25 (4): 191–9. doi:10.1016/S0166-2236(00)02118-4. PMID 11998687.
  • Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT (July 2003). "Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia". Brain. 126 (Pt 7): 1537–44. doi:10.1093/brain/awg173. PMID 12805098.
  • Tentler D, Gustavsson P, Leisti J, Schueler M, Chelly J, Timonen E, Annerén G, Willard HF, Dahl N (July 1999). "Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia". European Journal of Human Genetics. 7 (5): 541–8. doi:10.1038/sj.ejhg.5200320. PMID 10439959.
  • Billuart P, Chelly J, Carrié A, Vinet M, Couvert P, McDonell N, Zemni R, Kahn A, Moraine C, Beldjord C, Bienvenu T (2000). "Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation". Annales de Genetique. 43 (1): 5–9. doi:10.1016/S0003-3995(00)00015-0. PMID 10818214.
  • Pinheiro NA, Caballero OL, Soares F, Reis LF, Simpson AJ (October 2001). "Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis". Cancer Letters. 172 (1): 67–73. doi:10.1016/S0304-3835(01)00625-5. PMID 11595131.
  • Kitano T, Schwarz C, Nickel B, Pääbo S (August 2003). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Molecular Biology and Evolution. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
  • Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L (June 2003). "Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia". Journal of Medical Genetics. 40 (6): 441–6. doi:10.1136/jmg.40.6.441. PMC 1735502. PMID 12807966.
  • Xiao J, Neylon CB, Nicholson GA, Furness JB (2004). "Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin". Neuroscience. 124 (4): 781–7. doi:10.1016/j.neuroscience.2004.01.007. PMID 15026118.
  • Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J (November 2005). "Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia". Neurology. 65 (9): 1364–9. doi:10.1212/01.wnl.0000182813.94713.ee. PMID 16221952.
 This article incorporates public domain material from the National Institutes of Health document "OPHN1 syndrome".
Retrieved from "https://www.wikidoc.org/index.php?title=OPHN1&oldid=1534252"