Ophthalmologic abnormalities in a de novo terminal 6q deletion

Khaled K. Abu-Amero, Ali Hellani, Mustafa A. Salih, Abdulkarim Al Hussain, Majed Al Obailan, Ghassan Zidan, Ibrahim A. Alorainy, Thomas Bosley

Research output: Contribution to journalArticle

Abstract

Purpose: To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. Methods: Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded chromosomes and 244K array CGH analysis. Results: This 14 year old Saudi boy had modest mental retardation, seizures, microcephaly, cortical dysplasia, a non-comitant esotropia, impersistent eccentric gaze, congenital nystagmus, thick corneas, and substantial myopia. He had a de novo 10.79Mb deletion on chromosome 6 from 6q25.3 to 6qter. The deleted region extended from nucleotide 159929512 to 170723629 and encompassed 87 genes. Eleven genes remained within the proband's deleted region after excluding genes located in deleted areas reported in phenotypically normal individuals. Among those 11 genes, only the TBP (TATA box binding protein) gene has been associated with any symptom or sign observed in our patient. Conclusions: This boy had clinical features similar to patients reported with the 6q terminal deletion syndrome. In addition, he had an unusual ocular motility pattern and thick corneas, features that may be more common than previously recognized. Deleted genes in this area of chromosome 6 may contribute to ophthalmic abnormalities in addition to mental retardation.

Original languageEnglish (US)
Pages (from-to)1-11
Number of pages11
JournalOphthalmic Genetics
Volume31
Issue number1
DOIs
StatePublished - Mar 2010
Externally publishedYes

Fingerprint

Genes
Chromosomes, Human, Pair 6
Intellectual Disability
Cornea
Congenital Nystagmus
Eye Abnormalities
TATA-Box Binding Protein
Esotropia
Malformations of Cortical Development
Microcephaly
Cytogenetic Analysis
Myopia
Signs and Symptoms
Monosomy 6q Chromosome 6
Seizures
Nucleotides
Chromosomes
Genotype
Phenotype

Keywords

  • Chromosome deletion
  • Congenital nystagmus
  • Esotropia
  • Horizontal gaze anomaly
  • Mental retardation
  • Myopia
  • Thick cornea

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this

Abu-Amero, K. K., Hellani, A., Salih, M. A., Hussain, A. A., Obailan, M. A., Zidan, G., ... Bosley, T. (2010). Ophthalmologic abnormalities in a de novo terminal 6q deletion. Ophthalmic Genetics, 31(1), 1-11. https://doi.org/10.3109/13816810903312535

Ophthalmologic abnormalities in a de novo terminal 6q deletion. / Abu-Amero, Khaled K.; Hellani, Ali; Salih, Mustafa A.; Hussain, Abdulkarim Al; Obailan, Majed Al; Zidan, Ghassan; Alorainy, Ibrahim A.; Bosley, Thomas.

In: Ophthalmic Genetics, Vol. 31, No. 1, 03.2010, p. 1-11.

Research output: Contribution to journalArticle

Abu-Amero, KK, Hellani, A, Salih, MA, Hussain, AA, Obailan, MA, Zidan, G, Alorainy, IA & Bosley, T 2010, 'Ophthalmologic abnormalities in a de novo terminal 6q deletion', Ophthalmic Genetics, vol. 31, no. 1, pp. 1-11. https://doi.org/10.3109/13816810903312535
Abu-Amero KK, Hellani A, Salih MA, Hussain AA, Obailan MA, Zidan G et al. Ophthalmologic abnormalities in a de novo terminal 6q deletion. Ophthalmic Genetics. 2010 Mar;31(1):1-11. https://doi.org/10.3109/13816810903312535
Abu-Amero, Khaled K. ; Hellani, Ali ; Salih, Mustafa A. ; Hussain, Abdulkarim Al ; Obailan, Majed Al ; Zidan, Ghassan ; Alorainy, Ibrahim A. ; Bosley, Thomas. / Ophthalmologic abnormalities in a de novo terminal 6q deletion. In: Ophthalmic Genetics. 2010 ; Vol. 31, No. 1. pp. 1-11.
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