Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
MCCRP1
TUBGCP6
chorioretinopathy
microcephaly
prenatal
tubulinopathy
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:
07 2023
07 2023
Historique:
revised:
23
03
2023
received:
17
01
2023
accepted:
27
03
2023
medline:
8
6
2023
pubmed:
10
4
2023
entrez:
9
4
2023
Statut:
ppublish
Résumé
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.
Identifiants
pubmed: 37031378
doi: 10.1002/ajmg.a.63203
doi:
Substances chimiques
TUBGCP6 protein, human
0
Microtubule-Associated Proteins
0
Types de publication
Review
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1935-1941Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
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