Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
J Orthop Surg Res
; 19(1): 449, 2024 Jul 30.
Article
em En
| MEDLINE
| ID: mdl-39080720
ABSTRACT
BACKGROUND:
Polydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog signaling pathway, regulating the development of the anterior-posterior axis in limbs.METHODS:
Three pedigrees of polydactyly patients were enrolled from Hunan Province, China. Pathogenic variants were identified by whole-exome sequencing (WES) and Sanger sequencing.RESULTS:
Three variants in GLI3 were identified in three unrelated families, including a novel deletion variant (c.1372del, p.Thr458GlnfsTer44), a novel insertion-deletion (indel) variant (c.1967_1968delinsAA, p.Ser656Ter), and a nonsense variant (c.2374 C > T, p.Arg792Ter). These variants were present exclusively in patients but not in healthy individuals.CONCLUSIONS:
We identified three pathogenic GLI3 variants in polydactyly patients, broadening the genetic spectrum of GLI3 and contributing significantly to genetic counseling and diagnosis for polydactyly.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linhagem
/
Polidactilia
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Proteína Gli3 com Dedos de Zinco
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Proteínas do Tecido Nervoso
Limite:
Female
/
Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article