Alksere Baiba, Kornejeva Liene, Grinfelde Ieva, Dzalbs Aigars, Enkure Dace, Conka Una, Andersone Santa, Blumberga Arita, Nikitina-Zake Liene, Kangare Liga, Radovica-Spalvina Ilze, Vasiljeva Inta, Gailite Linda, Erenpreiss Juris, Fodina Violeta
iVF Riga Clinic, Latvia.
Riga Stradins University, Latvia.
Mol Genet Metab Rep. 2021 Sep 20;29:100796. doi: 10.1016/j.ymgmr.2021.100796. eCollection 2021 Dec.
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, ). There are two main types of these disorders - hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100) occurs in 1 out of 5000-10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia - XLHED) [2]. The main cause of XLHED is a broad range of pathogenic variants in the gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]. We report here the case of a patient with a novel inherited allelic variant in the gene - NM_001399.5:c.337C>T (p.Gln113*) - in the heterozygous state. Targeted family member screening was conducted and other carriers of this gene pathogenic variant were identified and phenotypically characterised. The patient subsequently underwent fertilisation with preimplantation genetic testing for monogenic diseases (PGT-M).
遗传性外胚层发育不良是一组复杂的遗传性疾病，其特征是两种或更多种外胚层衍生物（皮肤、指甲、汗腺等）出现异常。这些疾病主要有两种类型——有汗型和少汗型/无汗型外胚层发育不良。少汗型外胚层发育不良（HED）或克里斯蒂 - 西门子 - 图赖讷综合征（OMIM：305100）在5000 - 10000例出生中出现1例[19]，具有X连锁隐性遗传模式（X连锁少汗型外胚层发育不良 - XLHED）[2]。XLHED的主要病因是位于编码跨膜蛋白外胚层发育不全蛋白A的基因（HGNC：3157，Xq12 - 13）中存在多种致病变体[4]。我们在此报告一例患者，该患者在该基因中存在一种新的遗传性等位基因变体——NM_001399.5:c.337C>T（p.Gln113*），处于杂合状态。我们对目标家庭成员进行了筛查，确定了该基因致病变体的其他携带者并对其进行了表型特征分析。该患者随后接受了单基因疾病植入前基因检测（PGT - M）的体外受精。
