The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Am J Med Genet A
; 176(2): 465-469, 2018 02.
Article
de En
| MEDLINE
| ID: mdl-29265708
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Ostéochondrodysplasies
/
Rétinopathies
/
Petit ARN nucléaire
/
Retard mental lié à l'X
/
Nanisme
/
Troubles de la croissance
/
Déficits immunitaires
/
Déficience intellectuelle
/
Microcéphalie
/
Cardiomyopathies
Type d'étude:
Prognostic_studies
Limites:
Adolescent
/
Child, preschool
/
Female
/
Humans
/
Male
Langue:
En
Journal:
Am J Med Genet A
Sujet du journal:
GENETICA MEDICA
Année:
2018
Type de document:
Article