Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster

Autor:	Periklis Makrythanasis, Antonios Kattamis, Kenjiro Kosaki, K. Stokidis, Björn Menten, E. Kanavakis, P. Willems, Helena Fryssira
Rok vydání:	2011
Předmět:	Genetics Chromosome Biology medicine.disease Contiguous gene syndrome Craniosynostosis medicine Saethre–Chotzen syndrome Allele Haploinsufficiency Gene Genetics (clinical) HOXA13
Zdroj:	Molecular Syndromology. 2:45-49
ISSN:	1661-8777 1661-8769
DOI:	10.1159/000334313
Popis:	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’.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::bf9d8b0e3808761e9a39fb4859666ea0 https://doi.org/10.1159/000334313 Zobrazit plný text záznamu