An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

J. B. G. M. Verheij*, S. A. de Munnik, T. Dijkhuizen, N. de Leeuw, D. Olde Weghuis, G. J. van den Hoek, R. S. Rijlaarsdam, Y. E. M. Thomasse, F. G. Dikkers, C. L. M. Marcelis, C. M. A. van Ravenswaaij-Arts

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before.

The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions.

The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. However, she is too young to present features of this syndrome, apart from dysmorphic features like a bulbous nose and notched alae nasi.

Several genes are present in the commonly deleted region, including genes with unknown function, and genes for which haploinsufficiency is known to have no phenotypic effect in mice (Wnt1). A gene that might play a role in the convulsions of our patients is KCNQ3. (C) 2009 Elsevier Masson SAS. All rights reserved.

Original languageEnglish
Pages (from-to)353-357
Number of pages5
JournalEuropean journal of medical genetics
Volume52
Issue number5
DOIs
Publication statusPublished - 2009

Keywords

  • Interstitial deletion 8q
  • Coloboma
  • Heart defect
  • Digital anomalies
  • Array CGH
  • LANGER-GIEDION-SYNDROME
  • MUTATION
  • JERKY

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