Expansion of the genetic landscape of ERLIN2-related disorders.
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ABSTRACT:
SUBMITTER: Srivastava S
PROVIDER: S-EPMC7187699 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
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Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava Siddharth S D'Amore Angelica A Cohen Julie S JS Swanson Lindsay C LC Ricca Ivana I Pini Antonella A Fatemi Ali A Ebrahimi-Fakhari Darius D Santorelli Filippo M FM
Annals of clinical and translational neurology 20200308 4
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. Over ...[more]
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