12 December 2017 : Case report
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome
Rare diseaseMarisol Ibarra-Ramirez1ABCDEF*, Luis Daniel Campos-Acevedo1ABC, Jose Lugo-Trampe1BF, Laura E. Martínez-Garza1AEF, Víctor Martinez-Glez23CD, María Valencia-Benitez34CD, Pablo Lapunzina23CD, Víctor Ruiz-Peréz34CDEF
Am J Case Rep 2017; 18:1325-1329
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.
Keywords: Ellis-Van Creveld Syndrome, Genes, Recessive, Rare Diseases
25 May 2023 : Case reportNeuroendocrine Carcinoma of the Extrahepatic Bile Ducts: A Case Report
Am J Case Rep In Press; DOI: 10.12659/AJCR.939239
24 May 2023 : Case reportAn Initially Missed Diagnosis of Venous Thromboembolic Phenomenon in Adult-Onset Still’s Disease: A Case Re...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939520
24 May 2023 : Case reportSuccessful Surgical Removal of a Giant Serous Ovarian Cyst in a 52-Year-Old Woman with Presurgical Body Mas...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939697
23 May 2023 : Case reportSuccessful Noninvasive Respiratory Management of an Infant with Bilateral Choanal Atresia and a Supernumera...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939642
Most Viewed Current Articles
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
07 Dec 2021 : Case reportEdwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...
Am J Case Rep 2021; 22:e934347