论文部分内容阅读
目的:探讨1例46，XY性发育异常(disorders of sex development，DSD)患儿的遗传学机制，并分析其基因型与表型的相关性。方法:对患儿进行全外显子组测序，并对其n NR5A1基因的第1~7外显子进行多重连接探针扩增检测。n 结果:患儿表现为幼稚女童外阴，Tanner分期为1期。B超可见卵巢和子宫。患儿外周血染色体核型为46，XY，全外显子组测序发现其携带n NR5A1基因第5外显子杂合缺失(chr9q33.3：127 255 298-127 255 438)，为新发现的致病变异，遗传自母亲，父亲未见异常。n 结论:46，XY DSD患儿主要表现为外生殖器男性化不足，n NR5A1基因变异是其重要的遗传学病因。全外显子组测序提高了基因变异的检出率，为患儿家庭的遗传咨询提供了确切的依据。n “,”Objective:To explore the genetic basis for a child with 46, XY disorders of sex development (DSD) and explore its genotype-phenotype correlation.Methods:The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of n NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis.n Results:The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46, XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the n NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father.n Conclusion:The main symptoms of 46, XY DSD children are insufficient external genitalia masculinization, for which variants of the n NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.n