This article reported the clinical characteristics and SRD5A2 gene mutation pattern of a child with steroid 5-α reductase type 2 deficiency. The 2-month-old boy showed hypospadias and short penis shortly after birth. DNA was extracted from the peripheral blood of the child and his parents. The endocrine disease-related genes were captured and sequenced by high-throughput sequencing technology, and the family DNA samples were verified by Sanger sequencing. The results showed that c.680G>A(p.R227Q) and c.608G>A(p.G203D) compound heterozygous mutations existed in the SRD5A2 gene of the child. The c.680G>A mutation inherited from his father, which was a known pathogenic mutation. The c.608G>A mutation originated from his mother, which was a novel mutation discovered in this study. These results provide molecular evidence for the etiological diagnosis of the child and genetic counseling for the family, as well as extend the mutation spectrum of SRD5A2 gene.
该文报道1例类固醇5-α还原酶2型缺乏症患儿的临床特征及SRD5A2基因突变特点。患儿男性，2月龄，生后即出现尿道下裂及阴茎短小。提取患儿及父母外周血DNA，通过高通量测序技术对患儿DNA样本进行内分泌疾病相关基因的捕获测序，并对家系DNA样本进行Sanger测序验证。结果显示患儿SRD5A2基因存在c.680G > A(p.R227Q)和c.608G > A(p.G203D)复合杂合突变，其中c.680G > A来源于其父亲，为已知致病性突变，c.608G > A来源于其母亲，为新发现的突变。该研究为患儿病因诊断及该家系的遗传咨询提供了分子依据，并扩展了SRD5A2基因突变谱。