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Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava, Siddharth; D'Amore, Angelica; Cohen, Julie S; Swanson, Lindsay C; Ricca, Ivana; Pini, Antonella; Fatemi, Ali; Ebrahimi-Fakhari, Darius; Santorelli, Filippo M.
Affiliation
  • Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • D'Amore A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Cohen JS; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Swanson LC; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland.
  • Ricca I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Pini A; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Fatemi A; IRCCS Istituto delleScienzeNeurologiche di Bologna-UOC Neuropsichiatria Infantile, Bologna, Italy.
  • Ebrahimi-Fakhari D; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland.
  • Santorelli FM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Ann Clin Transl Neurol ; 7(4): 573-578, 2020 04.
Article in En | MEDLINE | ID: mdl-32147972
ABSTRACT
ERLIN2-related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, associated also with sensorineural hearing loss in one child. One further subject had a de novo p.Gln63Lys and one harbors the homozygous p.Val136Gly because of maternal isodisomy of chromosome 8. Overall, we expanded the clinical and genetic spectrum of ERLIN2-related disorders and we reiterate that autosomal-dominant transmission is a potential mode of inheritance. Future research will elucidate disease mechanisms.
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Membrane Proteins / Movement Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Ann Clin Transl Neurol Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Developmental Disabilities / Membrane Proteins / Movement Disorders Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Ann Clin Transl Neurol Year: 2020 Type: Article