The gene ALMS1 is involved in autosomal recessive Alstrom syndrome.
The estimated prevalence of Almstöm syndrome is <1:100,000.[Error: Macro 'ref' doesn't exist]
The full-blown clinical picture is present only if two mutated alleles are present. Though a typical recessive disease, some clinical feature might be present in heterozygous carries too. These include obesity, dyslipidemia rich in triglycerides and type 2 diabetes melitus.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Collin GB et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. |
2. |
Hearn T et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. |
3. |
Minton JA 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. |
4. |
Li G et al. (2007) A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. |
5. |
Collin GB et al. (1997) Homozygosity mapping at Alström syndrome to chromosome 2p. |
6. |
Marshall JD et al. (1997) Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. |
7. |
NCBI article NCBI 7840 |
8. |
OMIM.ORG article Omim 606844 |
9. |
Orphanet article Orphanet ID 119632 |
10. |
Wikipedia article Wikipedia EN (ALMS1) |