A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient

Molecular syndromology

Eduardo Perrone¹ 

关键词: Brachydactyly;    Cartilage calcifications;    Keutel syndrome;    MGP mutation;    Pulmonary artery stenosis;   

DOI  :  10.1159/000488573

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Keutel syndrome is caused by mutations in the matrix gamma-carboxyglutamic acid (MGP) gene (OMIM 154870) and is inherited in an autosomal recessive fashion. It is characterized by brachydactyly, pulmonary artery stenosis, a distinctive facial phenotype, and cartilage calcification. To date, only 36 cases have been reported worldwide. We describe clinical and molecular findings of the first Brazilian patient with Keutel syndrome. Keutel syndrome was suspected based on clinical and morphological evaluation, so we sequenced the MGP gene using the TruSight One Sequencing Panel (Illumina). The obtained MGP gene sequence was then validated by Sanger sequencing. We identified a novel pathogenic homozygous variant of the MGP gene (c.2T>C; p.Met1Thr) confirming Keutel syndrome. Proper diagnosis of this syndrome is important for clinical management and is an indication for genetic counseling. Keutel syndrome should be suspected in patients with cartilage calcifications and brachydactyly when associated with a distinctive facial phenotype and pulmonary artery stenosis.

【 授权许可】

CC BY