Mutation in MEOX1gene causes a recessive Klippel-Feil syndrome subtypeReport as inadecuate




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BMC Genetics

, 14:95

Functional genetics

Abstract

BackgroundKlippel-Feil syndrome KFS is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.

ResultsWe identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel’s deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice.

ConclusionsHere, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.

KeywordsKlippel-Feil syndrome MEOX1 Whole-exome sequencing Vertebra Whole genome linkage analysis Electronic supplementary materialThe online version of this article doi:10.1186-1471-2156-14-95 contains supplementary material, which is available to authorized users.

Fatih Bayrakli, Bulent Guclu contributed equally to this work.

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Author: Fatih Bayrakli - Bulent Guclu - Cengiz Yakicier - Hatice Balaban - Ugur Kartal - Bekir Erguner - Mahmut Samil Sagiroglu -

Source: https://link.springer.com/







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