TY - JOUR
T1 - Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome
AU - Abu-Amero, Khaled K.
AU - Kondkar, Altaf
AU - Hellani, Ali M.
AU - Oystreck, Darren T.
AU - Khan, Arif O.
AU - Bosley, Thomas M.
N1 - Funding Information:
This project was supported by the King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia [Project # AT-30-20].
Publisher Copyright:
© 2015 Informa Healthcare USA, Inc. All rights reserved.
PY - 2015/6/1
Y1 - 2015/6/1
N2 - 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.
AB - 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.
KW - Beta-3 (CHRNB3, neuronal)
KW - Cholinergic receptor nicotinic
KW - Clinodactyly
KW - Duane retraction syndrome
KW - Low-set ears
KW - Syndromic Duane syndrome
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U2 - 10.3109/13816810.2013.835431
DO - 10.3109/13816810.2013.835431
M3 - Article
C2 - 24001015
AN - SCOPUS:84931839880
SN - 1381-6810
VL - 36
SP - 99
EP - 104
JO - Ophthalmic genetics
JF - Ophthalmic genetics
IS - 2
ER -