Last update: 05/06/2006
Background to disease
OMIM 203800 (gene OMIM 606844)
Alstrom syndrome is characterised by obesity, diabetes mellitus, progressive sensorineural hearing loss leading to deafness, and cone-rod dystrophy leading to blindness. Dilated cardiomyopathy is a feature of some, but not all, alstrom cases.
Alstrom syndrome is an autosomal recessive disorder caused by mutations in the ALMS1 gene. All mutations reported to date are nonsense mutations, small deletions or, more rarely, large deletions. The mutations cluster in exons 8, 10 and 16.
Linkage analysis using microsatellite markers that flank the ALMS1 gene can be used for prenatal analysis in families where the mutations are unknown.
Laboratory Analysis
Contact scientist: Kim Flintoff
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Test |
Target reporting time (working days) |
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1. |
Bidirectional sequencing of exons 10 and 16 (detects 65% of all reported mutations) |
40 |
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2. |
Bidirectional sequencing of exons 8 (increases detection to 78% of all reported mutations) |
40 |
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3. |
Screening the remaining exons by bidirectional sequencing |
On request |
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4. |
Microsatellite analysis |
20 |