[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
OBJECTIVE
To detect potential mutation in ALDH5A1 gene for a family affected with succinic semialdehyde dehydrogenase deficiency diagnosed by clinical inspection and urine screening.


METHODS
Polymerase 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.


RESULTS
The 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).


CONCLUSIONS
Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are responsible for the pathogenesis of the disease in this family.
Graduate School, Tianjin Medical University, Tianjin 300070, P. R. China. ypingsli@yahoo.com.
Shu-zhen
SZ
Jiang
Jian-bo
JB
Shu
Yu-qin
YQ
Zhang
Wen-xuan
WX
Fan
Ying-tao
YT
Meng
Li
L
Song
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D002658:Developmental Disabilities; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics
C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase