Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster

H. Fryssira, P. Makrythanasis, A. Kattamis, K. Stokidis, B. Menten, K. Kosaki, P. Willems, E. Kanavakis

Research output: Contribution to journalArticle

13 Citations (Scopus)

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'.

Original languageEnglish
Pages (from-to)45-49
Number of pages5
JournalMolecular Syndromology
Volume2
Issue number1
DOIs
Publication statusPublished - 2011 Dec 1

Keywords

  • Contiguous gene syndrome
  • HOXA
  • Hand-foot-uterus syndrome
  • Saethre-Chotzen syndrome
  • TWIST
  • array-CGH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Fryssira, H., Makrythanasis, P., Kattamis, A., Stokidis, K., Menten, B., Kosaki, K., Willems, P., & Kanavakis, E. (2011). Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster. Molecular Syndromology, 2(1), 45-49. https://doi.org/10.1159/000334313