Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Autosomal recessive microcephaly type 3
CDK5RAP2
Centrosome
MOPDII
Meier-Gorlin syndrome
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
received:
24
11
2022
revised:
27
01
2023
accepted:
22
02
2023
medline:
3
4
2023
pubmed:
27
2
2023
entrez:
26
2
2023
Statut:
ppublish
Résumé
Autosomal recessive primary microcephaly type 3 (MCPH3) caused by pathogenic variations in CDK5RAP2, is characterized by sensorineural hearing loss, abnormality of skin pigmentation, ocular defects and severe microcephaly associated with neurodevelopmental delay. In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.
Identifiants
pubmed: 36842471
pii: S1769-7212(23)00039-3
doi: 10.1016/j.ejmg.2023.104733
pii:
doi:
Substances chimiques
CDK5RAP2 protein, human
0
Nerve Tissue Proteins
0
Cell Cycle Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104733Informations de copyright
Copyright © 2023 Elsevier Masson SAS. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare no competing interests.