Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the <i>KMT2A</i...

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Autores principales:	Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>KMT2A</i> Wiedemann–Steiner syndrome whole-exome sequencing Taiwan Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/a825f127e10840948a770d64e2988bb3
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spelling	oai:doaj.org-article:a825f127e10840948a770d64e2988bb32021-11-25T17:13:51ZWiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan10.3390/children81109522227-9067https://doaj.org/article/a825f127e10840948a770d64e2988bb32021-10-01T00:00:00Zhttps://www.mdpi.com/2227-9067/8/11/952https://doaj.org/toc/2227-9067Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the <i>KMT2A</i> gene (NM_001197104.2). In this article, we discuss a 5-year-old boy who has mild intellectual disability (ID), hypotonia, HC, hypertrichosis on the back, dysmorphic facies, psychomotor retardation, and growth delay. Trio-based whole-exome sequencing (trio-WES) was carried out on this patient and his parents, confirming the variants with Sanger sequencing. Trio-WES showed a de novo mutation of the <i>KMT2A</i> gene (NM_001197104.2: c.4696G>A, p.Gly1566Arg). On the basis of the clinical features and the results of the WES, WSS was diagnosed. Therefore, medical professionals should consider a diagnosis of WSS if patients have growth retardation and development delay as well as hirsutism, particularly HC.Chung-Lin LeeChih-Kuang ChuangHuei-Ching ChiuRu-Yi TuYun-Ting LoYa-Hui ChangHsiang-Yu LinShuan-Pei LinMDPI AGarticle<i>KMT2A</i>Wiedemann–Steiner syndromewhole-exome sequencingTaiwanPediatricsRJ1-570ENChildren, Vol 8, Iss 952, p 952 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>KMT2A</i> Wiedemann–Steiner syndrome whole-exome sequencing Taiwan Pediatrics RJ1-570
spellingShingle	<i>KMT2A</i> Wiedemann–Steiner syndrome whole-exome sequencing Taiwan Pediatrics RJ1-570 Chung-Lin Lee Chih-Kuang Chuang Huei-Ching Chiu Ru-Yi Tu Yun-Ting Lo Ya-Hui Chang Hsiang-Yu Lin Shuan-Pei Lin Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan
description	Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder. Patients with WSS have characteristics of growth retardation, facial dysmorphism, hypertrichosis cubiti (HC), and neurodevelopmental delays. WSS is in an autosomal dominant inherited pattern caused by a mutation of the <i>KMT2A</i> gene (NM_001197104.2). In this article, we discuss a 5-year-old boy who has mild intellectual disability (ID), hypotonia, HC, hypertrichosis on the back, dysmorphic facies, psychomotor retardation, and growth delay. Trio-based whole-exome sequencing (trio-WES) was carried out on this patient and his parents, confirming the variants with Sanger sequencing. Trio-WES showed a de novo mutation of the <i>KMT2A</i> gene (NM_001197104.2: c.4696G>A, p.Gly1566Arg). On the basis of the clinical features and the results of the WES, WSS was diagnosed. Therefore, medical professionals should consider a diagnosis of WSS if patients have growth retardation and development delay as well as hirsutism, particularly HC.
format	article
author	Chung-Lin Lee Chih-Kuang Chuang Huei-Ching Chiu Ru-Yi Tu Yun-Ting Lo Ya-Hui Chang Hsiang-Yu Lin Shuan-Pei Lin
author_facet	Chung-Lin Lee Chih-Kuang Chuang Huei-Ching Chiu Ru-Yi Tu Yun-Ting Lo Ya-Hui Chang Hsiang-Yu Lin Shuan-Pei Lin
author_sort	Chung-Lin Lee
title	Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan
title_short	Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan
title_full	Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan
title_fullStr	Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan
title_full_unstemmed	Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan
title_sort	wiedemann–steiner syndrome with a pathogenic variant in <i>kmt2a</i> from taiwan
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/a825f127e10840948a770d64e2988bb3
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Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

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