Identification of a novel ALMS1 mutation in a Chinese family with Alstrom syndrome

Purpose To report a novel mutation of ALMS1 in a Chinese family with Alstrom syndrome. Design Observational case report and results of DNA analysis. Methods A family including one patient and four unaffected relatives was examined clinically. One hundred normal Chinese individuals served as control subjects. Genomic DNA was extracted from venous blood of all participants. Exons 8, 10, and 16 of the ALMS1 gene was amplified by the PCR. The PCR products were analysed using direct sequencing. Results Clinical examination and laboratory investigations indicate Alstrom syndrome for the proband of this family. Sequencing of part of the ALMS1 gene identified one novel homozygous non-sense mutation, c. 8335 C > T, resulting in a premature termination signal at codon 2471 (Q2471X). Conclusions Our findings expand the spectrum of ALMS1 gene mutations causing Alstrom syndrome and further confirm the role of ALMS1 gene in the pathogenesis of Alstrom syndrome. Eye (2009) 23, 1210-1212; doi:10.1038/eye.2008.235; published online 25 July 2008