Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
Am J Med Genet A
; 191(4): 1094-1100, 2023 04.
Article
in En
| MEDLINE
| ID: mdl-36622817
ABSTRACT
Biallelic pathogenic variants in RNU4ATAC cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry-Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping features. Although historically described as discrete conditions they appear to represent a phenotypic spectrum with clinical features not always aligning with diagnostic categories. Clinical variability and ambiguity in diagnostic criteria exist among each disorder. Here we report an individual with a novel genotype and phenotype spanning all three disorders, expanding the phenotypic spectrum of RNU4ATAC-related spliceosomeopathies.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Dwarfism
/
Microcephaly
Limits:
Female
/
Humans
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2023
Type:
Article
Affiliation country:
Australia