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 

作者机构：Medical Genetics UnitSan Pio HospitalBenevento 82100Italy Department of Molecular Medicine and Medical BiotechnologyUniversity of Naples Federico IINapoli 80131Italy 

出 版 物：《World Journal of Medical Genetics》 (世界医学遗传学杂志)

年 卷 期：2020年第9卷第1期

页      面：1-11页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Chromatin Chromatin remodeling Chromatinopathies Wiedemann-Steiner syndrome Hairy elbows KMT2A 

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 *** is caused by heterozygous pathogenic variants in *** 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.