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Alopecia Areata-Like Pattern of Baldness: The Most Recent Update and the Expansion of Novel Phenotype and Genotype in the Ctnnb1 Gene Publisher Pubmed



Moeinafshar A1 ; Tehrani Fateh S1 ; Sadeghi H2 ; Karimzadeh P3 ; Mirfakhraie R4 ; Hashemigorji F2 ; Larki P5 ; Miryounesi M4, 5 ; Ghasemi MR4, 5
Authors
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Authors Affiliations
  1. 1. School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran
  2. 2. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Pediatric Neurology Department, Mofid children’s Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Neurological Sciences Published:2023


Abstract

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant genetic disorder caused by genetic alterations in the CTNNB1 gene. CTNNB1 is a gene that encodes β-catenin, an effector protein in the canonical Wnt pathway involved in stem cell differentiation and proliferation, synaptogenesis, and a wide range of essential cellular mechanisms. Mutations in this gene are also found in specific malignancies as well as exudative vitreoretinopathy. To date, only a limited number of cases of this disease have been reported, and though they share some phenotypic manifestations such as intellectual disability, developmental delay, microcephaly, behavioral abnormalities, and dystonia, the variety of phenotypic traits of these patients shows extreme heterogeneity. In this study, two cases of NEDSDV with de novo CTNNB1 mutations: c.1420C>T(p.R474X) and c.1377_1378Del(p.Ala460Serfs*29), found with whole exome sequencing (WES) have been reported and the clinical and paraclinical characteristics of these patients have been described. Due to such a wide range of clinical characteristics, the identification of new patients and novel variants is of great importance in order to establish a more complete phenotypic spectrum, as well as to conclude the genotype-phenotype correlations in these cases. © 2023, Fondazione Societa Italiana di Neurologia.
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