Aziz Abdul, Raza Syed I, Ali Salman, Ahmad Wasim
aDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University bArmy Medical College, National University of Science & Technology NUST), Islamabad, Pakistan.
Clin Dysmorphol. 2016 Jan;25(1):1-6. doi: 10.1097/MCD.0000000000000104.
Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC in autosomal recessive manner. Linkage in the families was established to chromosome 4p16. Subsequently, sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome.
埃利斯-范克里维尔德综合征（EVC）是一种罕见的发育障碍，其特征为四肢短小、肋骨短小、轴后多指（趾）畸形、指甲发育异常、牙齿异常、口腔及心脏异常。它由EVC或EVC2基因的双等位基因突变引起，这两个基因在4号染色体p16区域被2.6 kb的基因组序列隔开。在本研究中，我们调查了两个源自巴基斯坦的近亲家庭，EVC以常染色体隐性方式遗传。在家系中确定了与4号染色体p16区域的连锁关系。随后，序列分析在这两个家庭中鉴定出EVC2基因第8外显子中的一个新的无义突变（p.Trp234*）以及EVC基因第14外显子中的15 bp重复。这进一步扩展了导致EVC综合征的EVC或EVC2基因中的突变。
