The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
| Autor: | Mary Ellen Little, Michael B. Bober, Clare V. Logan, Jaqueline T. Hecht, Angela L. Duker, Laura S. Farach, Andrew P. Jackson |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Microcephaly Adolescent Developmental Disabilities Primary Immunodeficiency Diseases Lowry-Wood Syndrome Dwarfism Biology Osteochondrodysplasias Article Multiple epiphyseal dysplasia 03 medical and health sciences Retinal Diseases Genetic etiology Intellectual Disability RNA Small Nuclear Genetics medicine Humans Genetics (clinical) Growth Disorders Roifman syndrome Fetal Growth Retardation Immunologic Deficiency Syndromes medicine.disease Phenotype 030104 developmental biology Dysplasia Severe phenotype Child Preschool Mutation Mental Retardation X-Linked Female Cardiomyopathies |
| Zdroj: | American journal of medical genetics. Part A. 176(2) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text