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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

ABSTRACT: BACKGROUND: Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause. METHODS: In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE). RESULTS: All the children had the common clinical and radiological features of this syndrome. However, DNA sequence analysis of the genes shown to be involved (EVC and EVC2) revealed a novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene in one family. In addition, we confirm previous mutational analyses that showed a truncating mutation in exon 13 of EVC gene (c.1813C>T; p.Q605X) in the second family and a single nucleotide deletion (c.981delG; p.K327fs) in exon 8 of EVC2 gene in the third family. No mutations in the exons, splice sites or the promoter regions of either gene have been found in the index case of the fourth family who exhibited "EvC-like" features. CONCLUSIONS: Given the small population size of UAE, our data illustrates further the molecular heterogeneity observed in EvC patients and excludes the possibility of a common founder effect for this condition in the UAE reflecting the current ethnic diversity of the country.

SUBMITTER: Ali BR

PROVIDER: S-EPMC2845574 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Ali Bassam R BR Akawi Nadia A NA Chedid Faris F Bakir Mahmood M Ur Rehman Moghis M Rahmani Aiman A Al-Gazali Lihadh L

BMC medical genetics 20100225

<h4>Background</h4>Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause.<h4>Methods</h4>In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families fr ...[more]

PMID: 20184732

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Project description:BackgroundEllis-van Creveld is a dwarfing syndrome transmitted as an autosomal recessive trait. The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial polydactyly of the hands and congenital heart disease. Congenital heart disease affects 50-60 % of all patients and nearly 50 % of patients die by 18 months of age from cardiopulmonary complications. This study is intended to characterise the orthopaedic manifestations of Ellis-van Creveld based on the authors' unique opportunity to interview and examine the largest group of patients to date in the literature.MethodsDetailed interviews, physical examinations and/or radiographs were available on 71 cases of Ellis-van Creveld syndrome. Data were collected from physical examinations, radiographs, computed tomography (CT) reconstruction and magnetic resonance imaging (MRI) of the knee. Pathoanatomy of the knee was reinforced by the direct surgical observation of 25 limbs surgically managed during adolescence and puberty.ResultsA number of interesting clinical and radiographic abnormalities were noted in the upper extremities and lower extremities, but by far the most significant orthopaedic finding was a severe and relentlessly progressive valgus deformity of the knee. Although many patients had difficulties making a "fist" with the hand, no patient reported any functional disability. The severe valgus deformity of the knee is the result of a combination of profound contractures of the iliotibial band, lateral quadriceps, lateral hamstrings and lateral collateral ligament, leading to lateral patellar subluxation and dislocation. The lateral portion of the upper tibial plateau presents with cupping and progressive depression of the lateral plateau, along with severe valgus angulation of the proximal tibia and fibula. A proximal medial tibial exostosis is seen in nearly all cases.ConclusionThis is the largest group of Ellis-van Creveld syndrome patients identified in the literature. An understanding of the orthopaedic pathoanatomy of the knee deformity is critical to determining the appropriate surgical management. This paper characterises the orthopaedic manifestations of Ellis-van Creveld syndrome and especially identifies the pathoanatomy of the severe and progressive valgus knee deformity.Level of evidenceLevel II.

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Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Publications

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

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