title: Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.
abstract: Alström syndrome is a rare, autosomal recessive disorder characterized by a wide spectrum of clinical features including early-onset retinal degeneration leading to blindness, sensorineural hearing loss, short stature, obesity, type 2 diabetes, hyperlipidemia and dilated cardiomyopathy. Renal, hepatic and pulmonary dysfunction may occur in the later phases of the disease. The three affected sisters, from a consanguineous Turkish family, with the characteristic features of Alström syndrome, were clinically diagnosed in 1987 and followed for 20 years. DNA sequence analysis of ALMS1, the causative gene in Alström syndrome, identified a novel homozygous disease-causing mutation, c.8164C>T, resulting in a premature termination codon in exon 10 in each of the three affected sisters. Furthermore, we describe the longitudinal disease progression in this family and report new clinical findings likely associated with Alström syndrome, such as pes planus and hyperthyroidism.
authors.affiliation: Section of Nutrition and Metabolism, Department of Pediatrics, Institute of Child Health and Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.
authors.forename: R K
authors.initials: RK
authors.lastname: Ozgül
authors.forename: I
authors.initials: I
authors.lastname: Satman
authors.forename: G B
authors.initials: GB
authors.lastname: Collin
authors.forename: E G
authors.initials: EG
authors.lastname: Hinman
authors.forename: J D
authors.initials: JD
authors.lastname: Marshall
authors.forename: O
authors.initials: O
authors.lastname: Kocaman
authors.forename: Y
authors.initials: Y
authors.lastname: Tütüncü
authors.forename: T
authors.initials: T
authors.lastname: Yilmaz
authors.forename: J K
authors.initials: JK
authors.lastname: Naggert
mesh_terms: D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics*; D018797:Cell Cycle Proteins; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006720:Homozygote; D006801:Humans; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins