Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.

Autor: Bejma TA; Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA., Beidler WS; Goshen College, Goshen, Indiana, USA., VanSickle EA; Division of Medical Genetics and Genomics, Corewell Health, Grand Rapids, Michigan, USA., Prokop JW; Office of Research, Corewell Health, Grand Rapids, Michigan, USA., Brown WT; Department of Radiology, Helen DeVos Children's Hospital and Corewell Health, Advanced Radiology Services, Grand Rapids, Michigan, USA., Scheurer-Monaghan A; Bronson Children's Hospital, Kalamazoo, Michigan, USA., Rossetti LZ; Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA.; Division of Medical Genetics and Genomics, Corewell Health, Grand Rapids, Michigan, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 09, pp. e63811. Date of Electronic Publication: 2024 Jul 09.
DOI: 10.1002/ajmg.a.63811
Abstrakt: There are currently multiple disorders of aminoacyl-tRNA synthetases described, including KARS1-related disorder resulting from dysfunctional lysyl-tRNA synthetases. In this report, we describe four novel KARS1 variants in three affected individuals, two of whom displayed arthrogryposis-like phenotypes, suggestive of phenotypic expansion. We also highlight subjective clinical improvement in one subject following lysine supplementation in conjunction with a protein-fortified diet, suggesting its potential as a novel treatment modality for KARS1-related disorders. This report offers additional insight into the etiology and management of KARS1-related disorders and expands our ability to provide guidance to affected individuals and their families.
(© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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