[A case of Wiedemann-Steiner syndrome caused by a novel variation of the KMT2A gene]

J L Wang; K Huang; W Wu; M Q Zhu; H Lin; D W Wu; G P Dong; J F Fu

doi:10.3760/cma.j.cn112140-20201231-01145

[A case of Wiedemann-Steiner syndrome caused by a novel variation of the KMT2A gene]

Zhonghua Er Ke Za Zhi. 2021 Jun 2;59(6):516-518. doi: 10.3760/cma.j.cn112140-20201231-01145.

[Article in Chinese]

Authors

J L Wang¹, K Huang¹, W Wu¹, M Q Zhu¹, H Lin¹, D W Wu², G P Dong¹, J F Fu¹

Affiliations

¹ Department of Endorinology, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou 310052, China.
² Department of Genetics and Metabolism, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou 310052, China.

PMID: 34102828
DOI: 10.3760/cma.j.cn112140-20201231-01145

Abstract

1例KMT2A基因新发杂合变异引起的Wiedemann-Steiner 综合征患儿以身材矮小、多毛、智力落后及特殊面容为主要临床表现，全外显子组测序分析提示KMT2A基因c.2318dupC（p.S774Vfs*12）杂合变异。该病临床表现与Floating-Harbor 综合征、Kabuki综合征、Cornelia de Lange综合征、Rubinstein-Taybi综合征等有重叠，故需注意与以上疾病鉴别，基因检测有助于明确诊断，生长激素治疗可改善身高。.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Contracture*
Facies
Growth Disorders
Humans
Microcephaly*
Myeloid-Lymphoid Leukemia Protein / genetics

Substances

Myeloid-Lymphoid Leukemia Protein