دورية أكاديمية
أعرض في EDS

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.

التفاصيل البيبلوغرافية
العنوان: Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
المؤلفون: Ashrafi MR; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Department of Paediatrics, Division of Paediatric Neurology, Growth and Development Research Center, Children's Medical Centre, Paediatrics Centre of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Dehnavi AZ; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Tavasoli AR; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Heidari M; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Ghahvechi Akbari M; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Physical Medicine and Rehabilitation department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Ronagh AR; Pediatric Neurology Department, Alborz University of Medical Sciences, Karaj, Iran., Ghafouri M; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Mahdieh N; Genetic Research Center, Rajaei Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran., Mohammadi P; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Rezaei Z; Ataxia Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jun; Vol. 11 (6), pp. e2159. Date of Electronic Publication: 2023 Mar 03.
نوع المنشور: Case Reports; Review; Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Giant Axonal Neuropathy*/diagnosis , Giant Axonal Neuropathy*/genetics , Giant Axonal Neuropathy*/pathology , Peripheral Nervous System Diseases*/genetics, Male ; Humans ; Child ; Iran ; Retrospective Studies ; Cytoskeletal Proteins/genetics ; Mutation
مستخلص: Background: Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease-causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal neuropathy. Facial weakness, nystagmus, scoliosis, kinky or curly hair, pyramidal and cerebellar signs, and sensory and motor axonal neuropathy are the main symptoms of this disorder. Here, we report two novel variants in the GAN gene from two unrelated Iranian families.
Methods: Clinical and imaging data of patients were recorded and evaluated, retrospectively. Whole-exome sequencing (WES) was undertaken in order to detect disease-causing variants in participants. Confirmation of a causative variant in all three patients and their parents was carried out using Sanger sequencing and segregation analysis. In addition, for comparing to our cases, we reviewed all relevant clinical data of previously published cases of GAN between the years 2013-2020.
Results: Three patients from two unrelated families were included. Using WES, we identified a novel nonsense variant [NM_022041.3:c.1162del (p.Leu388Ter)], in a 7-year-old boy of family 1, and a likely pathogenic missense variant [NM_022041.3:c.370T>A (p.Phe124Ile)], in two affected siblings of the family 2. Clinical examination revealed typical features of GAN-1 in all three patients, including walking difficulties, ataxic gait, kinky hair, sensory-motor polyneuropathy, and nonspecific neuroimaging abnormalities. Review of 63 previously reported cases of GAN indicated unique kinky hair, gait problem, hyporeflexia/areflexia, and sensory impairment were the most commonly reported clinical features.
Conclusions: One homozygous nonsense variant and one homozygous missense variant in the GAN gene were discovered for the first time in two unrelated Iranian families that expand the mutation spectrum of GAN. Imaging findings are nonspecific, but the electrophysiological study in addition to history is helpful to achieve the diagnosis. The molecular test confirms the diagnosis.
(© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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معلومات مُعتمدة: 971846 NIMAD
فهرسة مساهمة: Keywords: Giant Axonal Neuropathy; WES; gigaxonin
المشرفين على المادة: 0 (Cytoskeletal Proteins)
تواريخ الأحداث: Date Created: 20230303 Date Completed: 20230615 Latest Revision: 20230616
رمز التحديث: 20230616
مُعرف محوري في PubMed: PMC10265088
DOI: 10.1002/mgg3.2159
PMID: 36866531
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.2159