Document Detail


Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.
MedLine Citation:
PMID:  17850632     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
R K Ozgül; I Satman; G B Collin; E G Hinman; J D Marshall; O Kocaman; Y Tütüncü; T Yilmaz; J K Naggert
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  72     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-09-13     Completed Date:  2007-11-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  351-6     Citation Subset:  IM    
Affiliation:
Section of Nutrition and Metabolism, Department of Pediatrics, Institute of Child Health and Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Blindness / diagnosis,  genetics*
Cardiomyopathy, Dilated / diagnosis,  genetics*
Child
DNA Mutational Analysis
Family Health
Female
Genes, Recessive
Hearing Loss, Sensorineural / diagnosis,  genetics
Homozygote
Humans
Proteins / genetics*
Sequence Analysis, DNA
Syndrome
Chemical
Reg. No./Substance:
0/ALMS1 protein, human; 0/Proteins

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