Abstract：
Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, although MBD5 haploinsufficiency may also cause this genetic disorder. We report a family harboring a heterozygous loss-of-function variant in MBD5 (NM_018328.5:c.728delC; p.Pro243Hisfs*26), which includes three affected siblings with varying phenotypic features. Both parents were phenotypically normal but deep coverage sequencing of the parents showed germline mosaicism in the mother.
摘要：
甲基-CpG结合域蛋白5（MBD5）基因的单倍功能不全导致神经发育障碍，包括智力障碍，发育迟缓,言语障碍,癫痫发作,睡眠障碍,和行为困难。2q23.1的微缺失是单倍体功能不全的最常见原因，尽管MBD5单倍体不足也可能导致这种遗传性疾病。我们报告了一个在MBD5中具有杂合功能丧失变体的家族（NM_018328.5：c.728delC；p.Pro243Hisfs*26），其中包括三个具有不同表型特征的受影响兄弟姐妹。父母双方都是表型正常的，但父母的深度覆盖测序显示母亲的种系镶嵌性。
