Open AccessWiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features
Author(s) -
Kürşat Bora Çarman,
Emre Kaplan,
Cefa Nil Aslan,
Sinem Kocagil,
Oguz Cilinigr,
Çoşkun Yarar
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1716709
Subject(s) - dbsnp , neurodevelopmental disorder , medicine , genetics , global developmental delay , differential diagnosis , pediatrics , gene , biology , single nucleotide polymorphism , genotype , pathology , phenotype
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we report a child with WSS presented with neurodevelopmental delay. Genetic analysis revealed a heterozygous c.2312dupC (p.Ser774Valfs*11) variant at the KMT2A gene that was classified as pathogenic in dbSNP (rs1057518649). To the best of our knowledge, this is the first patient of WSS from Turkey. This case draws attention to the diagnosis of WSS in children with neurodevelopmental delay.