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 | H Fryssira, P Makrythanasis, A Kattamis, K Stokidis, B Menten, K Kosaki, P Willems, E Kanavakis |
Journal | Molecular syndromology
(Mol Syndromol)
Vol. 2
Issue 1
Pg. 45-49
(Dec 2011)
ISSN: 1661-8769 [Print] Switzerland |
PMID | 22570644
(Publication Type: Journal Article)
|