Ibarra-Ramirez Marisol, Campos-Acevedo Luis Daniel, Lugo-Trampe Jose, Martínez-Garza Laura E, Martinez-Glez Víctor, Valencia-Benitez María, Lapunzina Pablo, Ruiz-Peréz Víctor
Department of Genetics, Faculty of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León, Mexico.
Institute of Medical and Molecular Genetics (INGEMM), Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.
Am J Case Rep. 2017 Dec 12;18:1325-1329. doi: 10.12659/ajcr.905976.
BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35. CASE REPORT Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. Family 1 includes four patients: three females of 15, 18, and 23 years of age and a 7-year old male. Family 2 has only one affected newborn male. All patients exhibited multiple features including hypodontia, dysplastic teeth, extra frenula, mild short stature, distal limb shortening, postaxial polydactyly of hands and feet, nail dystrophy, and knee joint abnormalities. Only two patients had an atrial septal defect. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. CONCLUSIONS The mutation c.1678G>T has been previously reported in another Mexican patient and it appears to be a recurrent mutation in Mexico which could represent a founder mutation. The large number of patients in this case allows the clinical variability and spectrum of manifestations present in individuals with Ellis-van Creveld syndrome even if they carry the same homozygous mutation in a same family.
埃利斯-范克里维尔德综合征是一种常染色体隐性软骨外胚层发育不良疾病，其特征为身材不成比例矮小、肢体缩短、胸廓狭窄、轴后多指（趾）畸形以及指甲和牙齿发育异常。此外，60%的病例存在先天性心脏缺陷。埃利斯-范克里维尔德综合征主要由EVC或EVC2（4p16）基因突变引起，仅有少数病例由WDR35基因突变导致。病例报告：在此，我们报告了两个患有埃利斯-范克里维尔德综合征的墨西哥家庭。家庭1包括四名患者：三名分别为15岁、18岁和23岁的女性以及一名7岁男性。家庭2仅有一名患病的新生儿男性。所有患者均表现出多种特征，包括牙齿发育不全、牙齿发育异常、额外的系带、轻度身材矮小、远端肢体缩短、手足轴后多指（趾）畸形、指甲营养不良以及膝关节异常。只有两名患者患有房间隔缺损。在所有病例中，通过桑格测序进行的分子分析在EVC基因第12外显子中鉴定出相同的纯合突变，即c.1678G>T，该突变导致提前出现终止密码子。结论：c.1678G>T突变先前在另一名墨西哥患者中已有报道，并且在墨西哥似乎是一种复发性突变，可能代表一种奠基者突变。本病例中的大量患者展现出了埃利斯-范克里维尔德综合征患者即使在同一家庭中携带相同纯合突变时所具有的临床变异性和表现谱。
