Skeletal Dysplasias Group, Department of Translational Medicine-Area of Medical Genetics, Medical Sciences Faculty, State University of Campinas (UNICAMP), São Paulo, Brazil.
Department of Statistics, Institute of Mathematics, Statistics and Scientific Computing, University of Campinas (UNICAMP), São Paulo, Brazil.
Am J Med Genet A. 2024 Feb;194(2):328-336. doi: 10.1002/ajmg.a.63444. Epub 2023 Oct 17.
Mesomelic skeletal dysplasia is a heterogeneous group of skeletal disorders that has grown since the molecular basis of these conditions is in the process of research and discovery. Here, we report a Brazilian family with eight affected members over three generations with a phenotype similar to mesomelic Kantaputra dysplasia. This family presents marked shortening of the upper limbs with hypotrophy of the lower limbs and clubfeet without synostosis. Array-based CNV analysis and exome sequencing of four family members failed to show any region or gene candidate. Interestingly, males were more severely affected than females in this family, suggesting that gender differences could play a role in the phenotypic expressivity of this condition.
中胚层型骨骼发育不良是一组异质性骨骼疾病，自从这些疾病的分子基础处于研究和发现阶段以来，其种类一直在增加。在这里，我们报告了一个巴西家族，该家族三代中有 8 名受影响的成员，其表型与中胚层型 Kantaputra 发育不良相似。该家族表现为上肢明显缩短，下肢萎缩，足部呈爪状但无骨融合。对四名家族成员进行基于阵列的 CNV 分析和外显子组测序均未能发现任何候选区域或基因。有趣的是，该家族中男性的病情比女性更严重，这表明性别差异可能在这种疾病的表型表达中起作用。
