Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy
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Citações na Scopus
1
Tipo de produção
article
Data de publicação
2023
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
HARRIS, Sarah C.
CHONG, Karen
CHITAYAT, David
GILMORE, Kelly L.
LERARIO, Antonio
SHANNON, Patrick
COPE, Heidi
GALLENTINE, William B.
Citação
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.191, n.5, p.1282-1292, 2023
Resumo
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 We describe seven unpublished probands with rare likely pathogenic variants or variants of uncertain significance that segregate with recessive disease in TBC1D32, including four fetal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 (TM)). 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.
Palavras-chave
ciliopathy, exome sequencing, prenatal phenotype
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