A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Mol Genet Genomic Med
; 12(2): e2393, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-38407575
ABSTRACT
BACKGROUND:
Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four-generation pedigree with 10 members affected by BDE and short stature.METHODS:
After the informed consent was signed, clinical data and peripheral blood samples were collected from available family members. Karyotype analysis, array-CGH, next-generation sequencing, and Sanger sequencing were employed to identity the pathogenic candidate gene.RESULTS:
No translocation or microdeletion/duplication was found in karyotype analysis and array-CGH; hence, a novel heterozygous mutation, c.146dupA. p.S50Vfs*22, was detected by next-generation sequencing in PTHLH gene, leading to a premature stop codon. Subsequently, the mutation was confirmed by Sanger sequencing and co-segregation analysis.CONCLUSION:
In this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of gene PTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum of PTHLH in BDE.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Nanismo
/
Braquidactilia
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article