A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome. (30th April 2015)

• Record Type: Journal Article
• Authors: Dunkerton, Sophie; Field, Matthew; Cho, Vicki; Bertram, Edward; Whittle, Belinda; Groves, Alexandra; Goel, Himanshu
• Is Part Of: American journal of medical genetics. Volume 167:Number 9(2015:Sep.)
• Page Start: 2182
• Page End: 2187
• Publication Date: 2015-04-30
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37130
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37130-sec-0001" sec-type="section"> <p>Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann–Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in <italic>KMT2A</italic>. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole‐exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A <italic>de novo heterozygous</italic> variant (p. Arg1083*) in the <italic>KMT2A</italic> gene was identified through whole‐exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in <italic>KMT2A</italic> associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>