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Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

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ID Minciencias: ART-0000201944-84
Ranking: ART-ART_A2

Abstract:

Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified in the EXT2 gene. This variant has been previously described in the literature, and here we are reporting the relationship with clinical findings. MHE is suspected according to the clinical manifestations; molecular research should be performed to establish the most frequent mutations. A support, diagnosis, and follow-up group should be created, and genetic counseling should be available for patients and families.

Tópico:

Bone Tumor Diagnosis and Treatments

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Información de la Fuente:

SCImago Journal & Country Rank
FuenteJournal of Pediatric Genetics
Cuartil año de publicaciónNo disponible
Volumen07
Issue03
Páginas122 - 124
pISSNNo disponible
ISSN2146-460X

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