Molecular analysis and long-term clinical evaluation of three siblings with Alstrom syndrome.
Document Type
Article
Publication Date
2007
Keywords
Blindness, Cardiomyopathy-Dilated, DNA-Mutational-Analysis, Family-Health, Genes-Recessive, Hearing-Loss-Sensorineural, Homozygote, Proteins, Sequence-Analysis-DNA
First Page
351
Last Page
356
JAX Source
Clin Genet 2007 Oct; 72(4):351-6.
Abstract
Alstrom 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 Alstrom syndrome, were clinically diagnosed in 1987 and followed for 20 years. DNA sequence analysis of ALMS1, the causative gene in Alstrom 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 Alstrom syndrome, such as pes planus and hyperthyroidism.
Recommended Citation
Ozgul RK,
Satman I,
Collin GB,
Hinman EG,
Marshall JD,
Kocaman O,
Tutuncu Y,
Yilmaz T,
Naggert JK.
Molecular analysis and long-term clinical evaluation of three siblings with Alstrom syndrome. Clin Genet 2007 Oct; 72(4):351-6.