Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency.
- Author:
Shu-zhen JIANG
1
;
Jian-bo SHU
;
Yu-qin ZHANG
;
Wen-xuan FAN
;
Ying-tao MENG
;
Li SONG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amino Acid Metabolism, Inborn Errors; enzymology; ethnology; genetics; Amino Acid Sequence; Animals; Asian Continental Ancestry Group; ethnology; genetics; Base Sequence; Child, Preschool; China; ethnology; Developmental Disabilities; Female; Heterozygote; Humans; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Polymorphism, Genetic; Succinate-Semialdehyde Dehydrogenase; deficiency; genetics
- From: Chinese Journal of Medical Genetics 2013;30(4):389-393
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation in ALDH5A1 gene for a family affected with succinic semialdehyde dehydrogenase deficiency diagnosed by clinical inspection and urine screening.
METHODSPolymerase chain reaction and direct DNA sequencing were carried out for the affected child and her parents. Suspected ALDH5A1 gene mutations were verified in 100 healthy controls to exclude polymorphisms.
RESULTSThe child was found to have carried 2 heterozygous missense mutations in the coding region of ALDH5A1 gene, namely c.527G>A and c.691G>A, for which her mother and father were respectively heterozygotes. The same mutations were not detected in 100 healthy controls. The child was also found to have carried two previously described polymorphisms including a heterozygous c.545C>T(derived from her father) and a homozygous c.538C>T(derived from her mother).
CONCLUSIONMissense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are responsible for the pathogenesis of the disease in this family.
