Expansion of the genetic landscape of ERLIN2-related disorders.

Annals of Clinical and Translational Neurology
Siddharth SrivastavaFilippo M Santorelli

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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Citations

Jan 14, 2021·Nucleus·Norma E Padilla-MejiaMark C Field
Jun 30, 2021·Molecular Genetics and Metabolism·Darius Ebrahimi-FakhariPhillip L Pearl

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

Protein Variation Effect Analyzer ( PROVEAN )
PolyPhen ‐ 2
UMD ‐ Predictor
Genomic Evolutionary Rate Profiling ( GERP
Functional Analysis Hidden Models ( FATHMM
MutationTaster
GeneDx

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