Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
Lowry-Wood syndrome
RNU4ATAC
Roifman syndrome
microcephalic osteodysplastic primordial dwarfism type 1
spliceosomopathy
whole genome sequencing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
revised:
19
12
2022
received:
09
11
2022
accepted:
22
12
2022
pubmed:
10
1
2023
medline:
15
3
2023
entrez:
9
1
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36622817
doi: 10.1002/ajmg.a.63110
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1094-1100Informations de copyright
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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