Scientific background:

Summary: The gene ALMS1 is involved in autosomal recessive Alstrom syndrome.

Clinical signs: 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.

Epidemiology: The estimated prevalence of Almstöm syndrome is <1:100,000.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 working days
		Effort		large
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Collin GB et al. (1997) Homozygosity mapping at Alström syndrome to chromosome 2p.
Marshall JD et al. (1997) Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.
Collin GB et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Hearn T et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
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.
Li G et al. (2007) A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.