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, Kenjiro Kosaki, P. Willems, E. Kanavakis

Research output: Contribution to journalArticle

12 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

Fingerprint

Multigene Family
Acrocephalosyndactylia
Haploinsufficiency
Genes
Craniosynostoses
Chromosome Deletion
Hypospadias
Mutation
Inborn Genetic Diseases
Sutures
Alleles
Phenotype
Hand foot uterus syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster. / Fryssira, H.; Makrythanasis, P.; Kattamis, A.; Stokidis, K.; Menten, B.; Kosaki, Kenjiro; Willems, P.; Kanavakis, E.

In: Molecular Syndromology, Vol. 2, No. 1, 12.2011, p. 45-49.

Research output: Contribution to journalArticle

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, vol. 2, no. 1, pp. 45-49. https://doi.org/10.1159/000334313
Fryssira, H. ; Makrythanasis, P. ; Kattamis, A. ; Stokidis, K. ; Menten, B. ; Kosaki, Kenjiro ; Willems, P. ; Kanavakis, E. / Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster. In: Molecular Syndromology. 2011 ; Vol. 2, No. 1. pp. 45-49.
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