Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
Medientyp:
E-Artikel
Titel:
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
Beteiligte:
Farach, Laura S.;
Little, Mary E.;
Duker, Angela L.;
Logan, Clare V.;
Jackson, Andrew;
Hecht, Jaqueline T.;
Bober, Michael
Erschienen:
Wiley, 2018
Erschienen in:
American Journal of Medical Genetics Part A, 176 (2018) 2, Seite 465-469
Sprache:
Englisch
DOI:
10.1002/ajmg.a.38581
ISSN:
1552-4825;
1552-4833
Entstehung:
Anmerkungen:
Beschreibung:
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.