Wiedemann-Steiner syndrome in two patients from Portugal

被引：12

作者：

Grangeia, Ana ^{[1
,2
]}

Leao, Miguel ^{[1
,3
]}

Moura, Carla P. ^{[1
,2
,3
]}

机构：

[1] Sao Joao Hosp Ctr, Dept Med Genet, Alameda Prof Hernani Monteiro, P-4200315 Porto, Portugal

[2] Univ Porto, i3S, Porto, Portugal

[3] Univ Porto, Fac Med, Dept Genet, Porto, Portugal

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2020年 / 182卷 / 01期

关键词：

autosomal dominant inheritance; development delay; growth retardation; KMT2A gene; MUTATIONS;

D O I：

10.1002/ajmg.a.61407

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.

引用

页码：25 / 28

页数：4

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