The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S Farach, Mary E Little, Angela L Duker, Clare V Logan, Andrew Jackson, Jaqueline T Hecht, Michael Bober

Research output: Contribution to journalArticlepeer-review

Abstract

RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay, microcephaly, and immune deficiency. The features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants. This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome.

Original languageEnglish
JournalAmerican Journal of Medical Genetics Part A
Volume176
Issue number2
Early online date19 Dec 2017
DOIs
Publication statusPublished - Feb 2018

Keywords

  • Journal Article

Fingerprint

Dive into the research topics of 'The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome'. Together they form a unique fingerprint.

Cite this