Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

ABSTRACT:

Background

Klippel-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.

Results

We 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

SUBMITTER: Bayrakli F 

PROVIDER: S-EPMC3849745 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature