Department of Paediatrics & Child Health, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania.
Department of Radiology, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania.
Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26.
We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs12 in exon 5, and c.2710C>T, p.Gln904 in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub-Saharan Africa.
我们报告了一例非洲婴儿患有 Ellis-van Creveld (EVC) 综合征。EVC 综合征是一种软骨和外胚层发育不良，呈常染色体隐性遗传。该婴儿表现为多指畸形、短肢和房室间隔缺损，但在生命的第一年就退出了临床随访。最初的血液学异常无法解释，后来恢复正常。EVC 综合征通过基因分析得到证实，该分析显示 EVC2 基因的两个致病性突变，c.653_654del，p.Val218Glyfs12 在 5 号外显子中，以及 c.2710C>T，p.Gln904 在 16 号外显子中。c.653_654del;p.Val218Glyfs*12 在 5 号外显子中的变异尚未被描述过。我们对医学文献的回顾表明，这是撒哈拉以南非洲首例分子确诊的 EVC 综合征病例。
