Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
نویسندگان
چکیده مقاله:
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The cases were two brothers with Jalili syndrome in an Iranian family, in whom, the sequence of causative gene (CNNM4), was identified. Their parents were not consanguineous and lived in a small village in East Azerbaijan, northwest of Iran. Both patients had enamel destruction since childhood. Ocular symptoms began in their adolescence and eventually led to photophobia, color blindness, and central vision loss amelogenesis imperfecta from childhood. Ocular symptoms began in adolescence with photophobia, achromatopsia, and central vision loss, which their vision gradually deteriorated in dim light and at night. Currently, the patients have very limited vision. In electroretinography of the proband, cone-rod degeneration, was diagnosed. A novel variant (c.1220G>T) was found by Sanger sequencing of CNNM4 in proband, which is segregated in the pedigree. This change may be due to replacement of arginine 407 with leucine (Arg407Leu). Analysis by pathogenesis predictive softwares, confirmed the involvement of this change in the development of Jalili syndrome in this family (this variation was not reported in the Exome Aggregation Consortium (ExAC) and 1000 genome databases. Arginine 407 has been conserved in several species.
منابع مشابه
Identification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
متن کاملA Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
متن کامل
Identification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS)
Background & Objective: Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study ...
متن کاملIdentification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
متن کاملNext-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ذخیره در منابع من قبلا به منابع من ذحیره شده{@ msg_add @}
عنوان ژورنال
دوره 13 شماره 8
صفحات 73- 79
تاریخ انتشار 2019-10
با دنبال کردن یک ژورنال هنگامی که شماره جدید این ژورنال منتشر می شود به شما از طریق ایمیل اطلاع داده می شود.
کلمات کلیدی برای این مقاله ارائه نشده است
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023