Alstrom syndrome other diagnostic studies: Difference between revisions
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===Molecular Genetic Testing=== | ===Molecular Genetic Testing<ref name="pmid11941370">{{cite journal |author=Hearn T, Renforth GL, Spalluto C, ''et al.'' |title=Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome |journal=Nat. Genet. |volume=31 |issue=1 |pages=79–83 |year=2002 |month=May |pmid=11941370 |doi=10.1038/ng874 |url=}}</ref>=== | ||
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Revision as of 16:00, 22 February 2013
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Alstrom syndrome Microchapters |
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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.
Other Diagnostic Studies
Molecular Genetic Testing[1]
| 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[2].
References
- ↑ 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)