Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family  

作　　者：Paolo Fontana Francesco Fioravanti Passaretti Marianna Maioli Giuseppina Cantalupo Francesca Scarano Fortunato Lonardo 

机构地区：[1]Medical Genetics Unit,San Pio Hospital,Benevento 82100,Italy [2]Department of Molecular Medicine and Medical Biotechnology,University of Naples Federico II,Napoli 80131,Italy

出　　处：《World Journal of Medical Genetics》2020年第1期1-11,共11页世界医学遗传学杂志

摘　　要：Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and downslanting and vertically narrow palpebral fissures;mild to moderate intellectual disability;behavioral difficulties;and hypertrichosis on the back.It is caused by heterozygous pathogenic variants in KMT2A.This gene has an established role in histone methylation,which explains the overlap of Wiedemann-Steiner syndrome with other chromatinopathies,a heterogeneous group of syndromic conditions that share a common trigger:The disruption of one of the genes involved in chromatin modification,leading to dysfunction of the epigenetic machinery.

关 键 词：CHROMATIN Chromatin remodeling Chromatinopathies Wiedemann-Steiner syndrome Hairy elbows KMT2A 

分 类 号：R73[医药卫生—肿瘤]