title: Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.
abstract: We describe a patient with a rare interstitial deletion of chromosome 7p21.1-p14.3 detected by array-CGH. The deletion encompassed 74 genes and caused haploinsufficiency (or loss of allele) of 6 genes known to be implicated in different autosomal dominant genetic disorders: TWIST, DFNA5, CYCS, HOXA11, HOXA13, and GARS. The patient had several morphological abnormalities similar to Saethre-Chotzen syndrome (caused by TWIST mutations) including craniosynostosis of the coronal suture and anomalies similar to those seen in hand-foot-uterus syndrome (caused by HOXA13 mutations) including hypospadias. The combined phenotype of Saethre-Chotzen syndrome and hand-foot-uterus syndrome of our patient closely resembles a previously reported case with a cytogenetically visible small deletion spanning 7p21-p14.3. We therefore conclude that microdeletions of 7p spanning the TWIST gene and HOXA gene cluster lead to a clinically recognizable 'haploinsufficiency syndrome'.
authors.affiliation: Department of Medical Genetics, University of Athens Medical School, Choremio Research Laboratory, 'Aghia Sophia' Children's Hospital, Athens, Greece.
authors.forename: H
authors.initials: H
authors.lastname: Fryssira
authors.forename: P
authors.initials: P
authors.lastname: Makrythanasis
authors.forename: A
authors.initials: A
authors.lastname: Kattamis
authors.forename: K
authors.initials: K
authors.lastname: Stokidis
authors.forename: B
authors.initials: B
authors.lastname: Menten
authors.forename: K
authors.initials: K
authors.lastname: Kosaki
authors.forename: P
authors.initials: P
authors.lastname: Willems
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis