Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

Khaled K. Abu-Amero, Altaf Kondkar, Ali M. Hellani, Darren T. Oystreck, Arif O. Khan, Thomas Bosley

Research output: Contribution to journalArticle

Abstract

Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome and modest dysmorphism. Materials and Methods: Clinical evaluation, sequencing of candidate genes, and array comparative genomic hybridization (array CGH). Results: The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. Parents were first cousins, but no other family member was similarly affected. No mutations were detected in the HOXA1. KIF21A. SALL4, TUBB3, and CHN1 genes. Array CGH revealed a 16Kb de novo deletion at chromosome 8p11.2 that encompassed a portion of only one gene, the Cholinergic Receptor, Nicotinic, Beta-3 (CHRNB3, Neuronal). This gene encodes a protein that is involved in the nicotinic acetylcholine receptor on neurons. It interacts functionally with other genes that code components of the acetylcholine receptor. Conclusions: This patient's chromosomal abnormality affected only one gene that is highly expressed in the brainstem and brain, involved in neurotransmission, and could be related to her Duane retraction syndrome.

Original languageEnglish (US)
Pages (from-to)99-104
Number of pages6
JournalOphthalmic Genetics
Volume36
Issue number2
DOIs
StatePublished - Jun 1 2015
Externally publishedYes

Fingerprint

Duane Retraction Syndrome
Nicotinic Receptors
Mutation
Genes
Cholinergic Receptors
Gene Components
Chromosome Deletion
Comparative Genomic Hybridization
Palate
Synaptic Transmission
Chromosome Aberrations
Cognition
Brain Stem
Ear
Parents
Neurons
Brain
Proteins

Keywords

  • Beta-3 (CHRNB3, neuronal)
  • Cholinergic receptor nicotinic
  • Clinodactyly
  • Duane retraction syndrome
  • Low-set ears
  • Syndromic Duane syndrome

ASJC Scopus subject areas

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

Cite this

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. / Abu-Amero, Khaled K.; Kondkar, Altaf; Hellani, Ali M.; Oystreck, Darren T.; Khan, Arif O.; Bosley, Thomas.

In: Ophthalmic Genetics, Vol. 36, No. 2, 01.06.2015, p. 99-104.

Research output: Contribution to journalArticle

Abu-Amero, Khaled K. ; Kondkar, Altaf ; Hellani, Ali M. ; Oystreck, Darren T. ; Khan, Arif O. ; Bosley, Thomas. / Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. In: Ophthalmic Genetics. 2015 ; Vol. 36, No. 2. pp. 99-104.
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