Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome

Khaled K. Abu-Amero, Altaf A. Kondkar, Abdullah Al Otaibi, Ibrahim A. Alorainy, Arif O. Khan, Ali M. Hellani, Darren T. Oystreck, Thomas Bosley

Research output: Contribution to journalArticle

Abstract

Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white matter abnormalities, and normal cognitive function. Materials and Methods: Performing high-resolution array comparative genomic hybridization (array CGH) and sequencing of HOXA1, KIF21A, SALL4, and CHN1 genes. Results: The proband had unilateral Duane retraction syndrome (DRS) type III on the right with low-set ears, prominent forehead, clinodactyly, and a history of frequent infections during early childhood. Motor development and cognitive function were normal. Parents were not related, and no other family member was similarly affected. MRI revealed multiple small areas of high signal on T2 weighted images in cerebral white matter oriented along white matter tracts. Sequencing of HOXA1, KIF21A, SALL4, and CHN1 did not reveal any mutation(s). Array CGH showed a 95 Kb de novo duplication on chromosome 19q13.4 encompassing four killer cell immunoglobulin-like receptor (KIR) genes. Conclusions. KIR genes have not previously been linked to a developmental syndrome, although they are known to be expressed in the human brain and brainstem and to be associated with certain infections and autoimmune diseases, including some affecting the nervous system. DRS and brain neuroimaging abnormalities may imply a central and peripheral oligodendrocyte abnormality related in some fashion to an immunomodulatory disturbance.

Original languageEnglish (US)
Pages (from-to)14-20
Number of pages7
JournalOphthalmic Genetics
Volume36
Issue number1
DOIs
StatePublished - Mar 1 2015
Externally publishedYes

Fingerprint

Duane Retraction Syndrome
Chromosomes, Human, Pair 19
KIR Receptors
Cognition
Chromosome Duplication
Genes
Comparative Genomic Hybridization
Forehead
Oligodendroglia
Brain
Infection
Neuroimaging
Nervous System
Autoimmune Diseases
Brain Stem
Ear
Parents
Mutation
White Matter

Keywords

  • Clinodactyly
  • Duane retraction syndrome
  • Killer cell immunoglobulin-like receptor
  • KIR gene
  • Low-set ears
  • Oligodendrocyte

ASJC Scopus subject areas

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

Cite this

Abu-Amero, K. K., Kondkar, A. A., Al Otaibi, A., Alorainy, I. A., Khan, A. O., Hellani, A. M., ... Bosley, T. (2015). Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome. Ophthalmic Genetics, 36(1), 14-20. https://doi.org/10.3109/13816810.2013.827218

Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome. / Abu-Amero, Khaled K.; Kondkar, Altaf A.; Al Otaibi, Abdullah; Alorainy, Ibrahim A.; Khan, Arif O.; Hellani, Ali M.; Oystreck, Darren T.; Bosley, Thomas.

In: Ophthalmic Genetics, Vol. 36, No. 1, 01.03.2015, p. 14-20.

Research output: Contribution to journalArticle

Abu-Amero, KK, Kondkar, AA, Al Otaibi, A, Alorainy, IA, Khan, AO, Hellani, AM, Oystreck, DT & Bosley, T 2015, 'Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome', Ophthalmic Genetics, vol. 36, no. 1, pp. 14-20. https://doi.org/10.3109/13816810.2013.827218
Abu-Amero KK, Kondkar AA, Al Otaibi A, Alorainy IA, Khan AO, Hellani AM et al. Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome. Ophthalmic Genetics. 2015 Mar 1;36(1):14-20. https://doi.org/10.3109/13816810.2013.827218
Abu-Amero, Khaled K. ; Kondkar, Altaf A. ; Al Otaibi, Abdullah ; Alorainy, Ibrahim A. ; Khan, Arif O. ; Hellani, Ali M. ; Oystreck, Darren T. ; Bosley, Thomas. / Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome. In: Ophthalmic Genetics. 2015 ; Vol. 36, No. 1. pp. 14-20.
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