Perrone Eduardo, Chen Kelin, Ramos Marco, Milanezi Maria Fernanda, Nakano Viviane, Falconi Ariane, Silva Juliana, Campos Jamille, Silva Celia M C, Filho Joao B O, Perez Ana B A
Department of Medical Genetics, Federal University of São Paulo, Brasil.
Department of Salomão Zoppi Diagnostics, São Paulo, Brasil.
Mol Syndromol. 2018 May;9(3):159-163. doi: 10.1159/000488573. Epub 2018 Apr 25.
Keutel syndrome is caused by mutations in the matrix gamma-carboxyglutamic acid () 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 gene using the TruSight One Sequencing Panel (Illumina). The obtained gene sequence was then validated by Sanger sequencing. We identified a novel pathogenic homozygous variant of the 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.
凯特尔综合征由基质γ-羧基谷氨酸（）基因（OMIM 154870）突变引起，呈常染色体隐性遗传。其特征为短指畸形、肺动脉狭窄、独特的面部表型和软骨钙化。迄今为止，全球仅报道了36例病例。我们描述了首例巴西凯特尔综合征患者的临床和分子学发现。基于临床和形态学评估怀疑为凯特尔综合征，因此我们使用TruSight One测序板（Illumina）对该基因进行测序。然后通过桑格测序验证所获得的该基因序列。我们鉴定出该基因一个新的致病性纯合变异（c.2T>C；p.Met1Thr），从而确诊凯特尔综合征。该综合征的正确诊断对临床管理很重要，也是遗传咨询的指征。当软骨钙化和短指畸形患者伴有独特的面部表型和肺动脉狭窄时，应怀疑为凯特尔综合征。
