Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Chung-Lin Lee; Chih-Kuang Chuang; Huei-Ching Chiu; Ru-Yi Tu; Yun-Ting Lo; Ya-Hui Chang; Hsiang-Yu Lin; Shuan-Pei Lin

doi:10.3390/children8110952

Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan

Children (Basel). 2021 Oct 22;8(11):952. doi: 10.3390/children8110952.

Authors

Chung-Lin Lee^{1

2

3

4

5}, Chih-Kuang Chuang^{6

7}, Huei-Ching Chiu¹, Ru-Yi Tu⁶, Yun-Ting Lo⁵, Ya-Hui Chang^{1

5}, Hsiang-Yu Lin^{1

3

4

5

6

8}, Shuan-Pei Lin^{1

3

5

6

9}

Affiliations

¹ Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
² Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 11221, Taiwan.
³ Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan.
⁴ MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan.
⁵ Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.
⁶ Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan.
⁷ College of Medicine, Fu-Jen Catholic University, Taipei 24205, Taiwan.
⁸ Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan.
⁹ Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan.

Abstract

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 KMT2A 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 KMT2A 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.

Keywords: KMT2A; Taiwan; Wiedemann–Steiner syndrome; whole-exome sequencing.

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