Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
TBC1D32
ciliopathy
exome sequencing
prenatal phenotype
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:
25
01
2023
received:
22
07
2022
accepted:
03
02
2023
medline:
10
4
2023
pubmed:
25
2
2023
entrez:
24
2
2023
Statut:
ppublish
Résumé
Exome sequencing is a powerful tool in prenatal and postnatal genetics and can help identify novel candidate genes critical to human development. We describe seven unpublished probands with rare likely pathogenic variants or variants of uncertain significance that segregate with recessive disease in TBC1D32, including four fetal probands in three unrelated pedigrees and three pediatric probands in unrelated pedigrees. We also report clinical comparisons with seven previously published patients. Index probands were identified through an ongoing prenatal exome sequencing study and through an online data sharing platform (Gene Matcher™). A literature review was also completed. TBC1D32 is involved in the development and function of cilia and is expressed in the developing hypothalamus and pituitary gland. We provide additional data to expand the phenotype correlated with TBC1D32 variants, including a severe prenatal phenotype associated with life-limiting congenital anomalies.
Identifiants
pubmed: 36826837
doi: 10.1002/ajmg.a.63150
pmc: PMC10204718
mid: NIHMS1896050
doi:
Substances chimiques
TBC1D32 protein, human
0
Adaptor Proteins, Signal Transducing
0
Types de publication
Review
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1282-1292Subventions
Organisme : NICHD NIH HHS
ID : R01 HD105868
Pays : United States
Informations de copyright
© 2023 Wiley Periodicals LLC.
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