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

• 作者: Fortunato Lonardo Francesca Scarano Francesco Fioravanti Passaretti Giuseppina Cantalupo Marianna Maioli Paolo Fontana
• 来源期刊: 世界医学遗传学杂志
• 学科: 医学
• 关键词: CHROMATIN Chromatin remodeling Chromatinopathies Wiedemann-Steiner syndrome Hairy elbows KMT2A
• 年，卷（期）: 2020,（1）
• 页码范围: 1-11
• 页数: 11页
• 分类号: R73

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.