Duan Fuhua, Zhai Yiwen, Kong Xiangdong
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):469-471. doi: 10.3760/cma.j.cn511374-20200117-00037.
To explore the clinical and genetic characteristics of a child with X-linked hypohidrotic ectodermal dysplasia (XLHED).
Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents with informed consent and subjected to copy number variation (CNV) analysis and whole exome sequencing (WES).
The male infant manifested sparse hair, anhidrosis, anuresis due to polycystic kidney dysplasia, external genital malformation and anal atresia. WES has revealed a 406 bp hemizygous deletion at Xq13 (68 836 147-68 836 553) in the proband, which encompassed exon 1 of the EDA gene. A heterozygous deletion at the same site was detected in the mother, while no deletion or duplication of the site was detected in the father.
The hemizygous deletion of EDA gene exon 1 probably underlay the ectodermal dysplasia in the proband. Above result has provided a basis for genetic counseling and prenatal diagnosis for the family.
探讨1例X连锁隐性少汗型外胚层发育不良（XLHED）患儿的临床及遗传学特征。
收集该患儿的临床资料。在获得知情同意后，采集患儿及其父母的外周血样本，进行拷贝数变异（CNV）分析和全外显子组测序（WES）。
该男婴表现为毛发稀疏、无汗、多囊肾发育不良导致的无尿、外生殖器畸形及肛门闭锁。WES显示先证者Xq13（68 836 147-68 836 553）处有一个406 bp的半合子缺失，该缺失包含EDA基因的第1外显子。在母亲中检测到相同位点的杂合子缺失，而在父亲中未检测到该位点的缺失或重复。
EDA基因第1外显子的半合子缺失可能是先证者外胚层发育不良的原因。上述结果为该家庭的遗传咨询和产前诊断提供了依据。
