一新型SOX9基因致病性突变:R178L(G→T)

A New Type of Deleterious SOX9 Gene Mutation:R178L(G→T)

人SOX9基因同时参与胚胎骨骼形成和睾丸发育调控.对一例多发畸形的早产女性胎儿进行SRY基因扩增和SOX9基因突变分析,发现其具有男性特异性SRY基因,且SOX9基因发生R178L(G→T)的突变,提示该病例为SOX9基因突变导致的广泛性先天发育不良合并常染色体男→女性性反转.该突变此前未见报道,这也是中国人群中首次报道致病性SOX9基因突变.

SOX9 gene is involved in both bone formation and testis development.Sequence analysis of a PCR fragment containing part of SOX9 gene from a penotypically female infant with several sorts of congenital malformation revealed a point mutation of R178L(G→T),while a male specific fragment of SRY gene was also amplified from its genomic DNA.These results suggest that the missense mutation inSOX9 may have caused CD syndrome and autosomal sex reversal in this case.This is an unreported SOX9 mutation before and also the first report of deleterious SOX9 mutation in Chinese.