Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
CWC27
Spliceosomopathies
cataract
ectodermal dysplasia
frameshift
retinitis pigmentosa
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:
05 2023
05 2023
Historique:
revised:
16
12
2022
received:
14
10
2022
accepted:
18
01
2023
medline:
10
4
2023
pubmed:
1
2
2023
entrez:
31
1
2023
Statut:
ppublish
Résumé
Pre-mRNA splicing factors are crucial in regulating transcript diversity, by removing introns from eukaryotic transcripts, an essential step in gene expression. Splicing of pre-mRNA is catalyzed by spliceosomes. CWC27 is a cyclophilin associated with spliceosome, in which genetic defects of its components have been linked to spliceosomopathies with clinical phenotypes including skeletal developmental defects, retinitis pigmentosa (RP), short stature, skeletal anomalies, and neurological disorders. We report two siblings (male and female) of Mexican descent with a novel homozygous frameshift variant in CWC27 and aim to highlight the cardinal features among the previously described 12 cases as well as expand the currently recognized phenotypic spectrum. Both siblings presented with a range of ocular and extraocular manifestations including novel features such as solitary kidney and tarsal coalition in the male sibling, together with gait abnormalities, and Hashimoto's thyroiditis in the female sibling. Finally, we highlight ectodermal involvement including sparse scalp hair, eyebrows and lashes, pigmentary differences, nail dysplasia, and dental anomalies as a core phenotype associated with the CWC27 spliceosomopathy.
Identifiants
pubmed: 36718996
doi: 10.1002/ajmg.a.63134
doi:
Substances chimiques
Cwc27 protein, human
EC 5.2.1.-
Cyclophilins
EC 5.2.1.-
Peptidylprolyl Isomerase
EC 5.2.1.8
RNA Precursors
0
Types de publication
Review
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1378-1383Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
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