Balkan Journal of Medical Genetics

A NOVEL c.973G>T MUTATION IN THE ε-SUBUNIT OF THE ACETYLCHOLINE RECEPTOR CAUSING CONGENITAL MYASTHENIC SYNDROME IN AN IRANIAN FAMILY
Karimzadeh P1,2, Parvizi Omran S3, Ghaedi H4, Omrani MD4,*
*Corresponding Author: Mir Davood Omrani, Ph.D., Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar Street, Daneshjoo Boulevard, Evin, Chamran Highway, Tehran, Islamic Republic of Iran, 1985717443. E-mail: davood_omrani@sbmu.ac.ir
page: 95

INTRODUCTION

Congenital myasthenic syndromes (CMSs) [MIM 100725] are a heterogeneous group of rare disorders arising from aberrations in the structure and function of proteins in neuromuscular junction. Symptoms of CMS generally emerge at the time of birth, or shortly after birth. Cases with mild symptoms can remain undiagnosed until adolescence or adulthood [1]. The disease is often characterized by the feature of fatigable weakness, but some typical presentations including ptosis and extraocular muscle, facial, bulbar and general weakness also occur. The subtypes of CMSs are classified as presynaptic, synaptic or postsynaptic, based on the localization of the defect [2]. Postsynaptic CMS is more common than the presynaptic type or the synaptic basal lamina. The postsynaptic subgroup is often caused by a kinetic abnormality of the acetylcholine receptor (AChR), a deficiency of AChR or both [3]. Mutations are dispersed over different adult subunits of AChR mainly (CHRNE; OMIM 608931), the gene encoding the ε-subunit. The CHRNE gene mutations are predominantly one of the most common causes in post-synaptic CMS patients [4]. The frequent identification of CMS patients worldwide with CHRNE mutations prompted us to clinically test our patient to see if there were any mutations in the candidate gene. We detected a novel CHRNE mutation in an Iranian family with the clinical phenotype of CMS. A homozygous missense mutation in the CHRNE gene was detected in the patient under study, belonging to this family. It is likely that the CHRNE gene in the patient was inherited from his parents who were genetically unaffected by this mutation.

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