Case Report: Wiedemann-Steiner syndrome with a new frameshift mutation in KMT2A

Jun He; Aimin Deng; Ying  chen; Shuyuan Yan; yanling wang; Tuanmei  Wang; Xiangwen Peng

doi:10.22541/au.170667836.69539164/v1

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Case Report: Wiedemann-Steiner syndrome with a new frameshift mutation in KMT2A

Jun He,
Aimin Deng,
Ying chen,
Shuyuan Yan,
yanling wang,
Tuanmei Wang,
Xiangwen Peng

Abstract

Here we report a 5 year old girl with a new frameshift mutation (c.2318dup:p.S774Vfs*12) in the KMT2A gene.The patient’s clinical manifestations: postnatal growth retardation, early teething, rapid tooth replacement,dysplasia of dentition; wide eye spacing; generalized hirsutism; stubby fingers; low muscle tension and retarded mental development.