J Pediatr Genet 2018; 07(03): 122-124
DOI: 10.1055/s-0038-1636998
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Jhon Camacho
1  Department of Pediatrics, Fundación Universitaria de Ciencias de la Salud, Hospital de San José, Bogotá D.C., Colombia
,
Luz Dary Gutierrez
2  Clinical Genetics, Fundación Universitaria de Ciencias de la Salud, Hospital de San José, Hospital Infantil Universitario de San José, Bogotá D.C., Colombia
,
Cladelis Rubio
2  Clinical Genetics, Fundación Universitaria de Ciencias de la Salud, Hospital de San José, Hospital Infantil Universitario de San José, Bogotá D.C., Colombia
,
Alfonso Suárez
2  Clinical Genetics, Fundación Universitaria de Ciencias de la Salud, Hospital de San José, Hospital Infantil Universitario de San José, Bogotá D.C., Colombia
,
Angie Amaya
3  Department of Pediatrics, Hospital de San José, Bogotá D.C., Colombia
› Author Affiliations
Further Information

Publication History

05 November 2017

06 February 2018

Publication Date:
07 March 2018 (eFirst)

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.

Authors' Contributions

All authors were involved in drafting and translation of the manuscript.