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Título: | Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome |
Autor: | Niceta, Marcello; Margiotti, Katia; Digilio, Maria Christina; Guida, Valentina; Bruselles, Alessandro; Pizzi, Simone; Ferraris, Alessandro; Memo, Luigi; Laforgia, Nicola; Dentici, Maria Lisa; Consoli, Francesco; Torrente, Isabella; Ruiz-Pérez, Victor L. CSIC ORCID; Dallapiccola, Bruno; Marino, B.; De Luca, Alessandro; Tartaglia. M. | Palabras clave: | DYNC2LI1 Ellis-van Creveld syndrome Jeune syndrome Genotype-phenotype correlations Short-rib thoracic dysplasia |
Fecha de publicación: | 2018 | Editor: | John Wiley & Sons | Citación: | Clinical Genetics 93(3): 632-639 (2018) | Resumen: | Ellis-van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes. A proportion of cases with clinical diagnosis of EvC, however, do not carry mutations in these genes. To identify the genetic cause of EvC in a cohort of mutation-negative patients, exome sequencing was undertaken in a family with 3 affected members, and mutation scanning of a panel of clinically and functionally relevant genes was performed in 24 additional subjects with features fitting/overlapping EvC. Compound heterozygosity for the c.2T>C (p.Met1?) and c.662C>T (p.Thr221Ile) variants in DYNC2LI1, which encodes a component of the intraflagellar transport-related dynein-2 complex previously found mutated in other short-rib thoracic dysplasias, was identified in the 3 affected members of the first family. Targeted resequencing detected compound heterozygosity for the same missense variant and a truncating change (p.Val141*) in 2 siblings with EvC from a second family, while a newborn with a more severe phenotype carried 2 DYNC2LI1 truncating variants. Our findings indicate that DYNC2LI1 mutations are associated with a wider clinical spectrum than previously appreciated, including EvC, with the severity of the phenotype likely depending on the extent of defective DYNC2LI1 function. | Versión del editor: | https://doi.org/10.1111/cge.13128 | URI: | http://hdl.handle.net/10261/188045 | DOI: | 10.1111/cge.13128 | ISSN: | 0009-9163 | E-ISSN: | 1399-0004 |
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