2. Academic Validation
  3. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

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.
Anjali Aggarwal 1,  David F Rodriguez-Buritica 2,  Hope Northrup 2
Affiliations

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: [email protected].
  • 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.

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