Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.

ABSTRACT: The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations or inversions misregulating HOXD genes are responsible for mesomelic dysplasia of the upper and lower limbs. By aCGH, whole-genome mate-pair sequencing, long-range PCR and fiber fluorescent in situ hybridization, we studied patients from two families displaying mesomelic dysplasia limited to the upper limbs. We identified microduplications including the HOXD cluster and showed that microduplications were in an inverted orientation and inserted between the HOXD cluster and the telomeric enhancers. Our results highlight the existence of an autoso

SUBMITTER: Le Caignec C 

PROVIDER: S-EPMC7028936 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature