Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

Anjali Aggarwal; David F Rodriguez-Buritica; Hope Northrup

doi:10.1016/j.ejmg.2017.03.006

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

Eur J Med Genet. 2017 Jun;60(6):285-288. doi: 10.1016/j.ejmg.2017.03.006. Epub 2017 Mar 27.

Authors

Anjali Aggarwal¹, David F Rodriguez-Buritica², Hope Northrup²

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX 77030, United States. Electronic address: Anjali.Aggarwal@uth.tmc.edu.
² Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX 77030, United States.

PMID: 28359930
DOI: 10.1016/j.ejmg.2017.03.006

Abstract

Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Whole Exome Sequencing and supported by some characteristic clinical features. Genotype and phenotype of the patient is compared with the earlier reported patients in the literature, in an attempt to broaden our knowledge of this rare syndrome.

Keywords: KMT2A; Novel pathogenic variant; Wiedemann-Steiner syndrome.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Child
Exome
Genotype
Histone-Lysine N-Methyltransferase / genetics*
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Mutation*
Myeloid-Lymphoid Leukemia Protein / genetics*
Phenotype
Syndrome

Substances

KMT2A protein, human
Myeloid-Lymphoid Leukemia Protein
Histone-Lysine N-Methyltransferase