Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ALMS1 gene

The gene ALMS1 is involved in autosomal recessive Alstrom syndrome.

Epidemiology

The estimated prevalence of Almstöm syndrome is <1:100,000.[Error: Macro 'ref' doesn't exist]

Phenotype

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.

Genetests:

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

Related Diseases:

Alström syndrome
ALMS1

References:

1.

Collin GB et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

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2.

Hearn T et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

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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.

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4.

Li G et al. (2007) A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.

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5.

Collin GB et al. (1997) Homozygosity mapping at Alström syndrome to chromosome 2p.

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6.

Marshall JD et al. (1997) Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

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7.

NCBI article

NCBI 7840 [^]
8.

OMIM.ORG article

Omim 606844 [^]
9.

Orphanet article

Orphanet ID 119632 [^]
10.

Wikipedia article

Wikipedia EN (ALMS1) [^]
Update: April 29, 2019