title: A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.
abstract: BACKGROUND
  Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (ALMS1) gene located at 2p13.1.
  
  
  METHODS
  In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were suspected of having AS.
  
  
  RESULTS
  Both brothers were found to be homozygous for a novel nonsense c.7310C>A (p.S2437X) mutation in exon-8 of ALMS1 gene. The consanguineous parents were sequenced and both were heterozygous for the same mutation.
  
  
  CONCLUSIONS
  This particular mutation has never been reported before and confirmed the diagnosis of AS in the patients. Our work identifies a novel mutation in ALMS1 gene responsible for the complex phenotype of AS in these patients.
authors.forename: Caley
authors.initials: C
authors.lastname: Laxer
authors.forename: Sofia A
authors.initials: SA
authors.lastname: Rahman
authors.forename: Maha
authors.initials: M
authors.lastname: Sherif
authors.forename: Sophia
authors.initials: S
authors.lastname: Tahir
authors.forename: Atilla
authors.initials: A
authors.lastname: Cayir
authors.forename: Huseyin
authors.initials: H
authors.lastname: Demirbilek
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D000293:Adolescent; D000328:Adult; D056769:Alstrom Syndrome / Q000235:genetics* / Q000473:pathology; D018797:Cell Cycle Proteins; D002648:Child; D003241:Consanguinity; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D011506:Proteins / Q000235:genetics*; D035781:Siblings; D014421:Turkey; D055815:Young Adult
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins