Alstrom syndrome other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances. | The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances<ref name="pmid16720663">{{cite journal |author=Minton JA, Owen KR, Ricketts CJ, ''et al.'' |title=Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue=8 |pages=3110–6 |year=2006 |month=August |pmid=16720663 |doi=10.1210/jc.2005-2633 |url=}}</ref>. | ||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
Revision as of 16:02, 22 February 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]
Overview
The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances[1].
Other Diagnostic Studies
Molecular Genetic Testing[2]
| Gene | Testing Method | Detected Mutations |
| ALMS1 | Targeted mutation analysis | 19-bp insertion exon 16 |
| ALMS1 | Sequence analysis of select exons: 16, 10, and 8 | Sequence variants |
| ALMS1 | Sequence analysis of entire coding region | Sequence variants |
| ALMS1 | Deletion / duplication analysis | Exonic and whole-gene deletions |
Sensitivity and specificity of the above test are 96% and 100% respectively. Positive and negative predictive values reach 100% for this test. Given the current detection rate, failure to identify a disease-causing sequence variant does not preclude the diagnosis of Alström syndrome[3].
References
- ↑ Minton JA, Owen KR, Ricketts CJ; et al. (2006). "Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome". J. Clin. Endocrinol. Metab. 91 (8): 3110–6. doi:10.1210/jc.2005-2633. PMID 16720663. Unknown parameter
|month=ignored (help) - ↑ Hearn T, Renforth GL, Spalluto C; et al. (2002). "Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome". Nat. Genet. 31 (1): 79–83. doi:10.1038/ng874. PMID 11941370. Unknown parameter
|month=ignored (help) - ↑ Marshall JD, Hinman EG, Collin GB; et al. (2007). "Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome". Hum. Mutat. 28 (11): 1114–23. doi:10.1002/humu.20577. PMID 17594715. Unknown parameter
|month=ignored (help)