Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome.
OBJECTIVE
To report a novel mutation of ALMS1 in a Chinese family with Alström syndrome.


METHODS
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 Alström 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 Alström syndrome and further confirm the role of ALMS1 gene in the pathogenesis of Alström syndrome.
Liu
L
L
Department of Genetics, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Capital Medical University, Beijing, China.
Dong
B
B
Chen
X
X
Li
J
J
Li
Y
Y
D056769:Alstrom Syndrome / Q000235:genetics* / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D018797:Cell Cycle Proteins; D002648:Child; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins