A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient

Global Medical Genetics · 7 authors, 5 centres

AI SUMMARY

FIDELITY 100%

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

This is a case report of a 13-month-old girl presenting with infantile spasm, developmental delay, and biochemical abnormalities.

Full summary

343 CHARS

This is a case report of a 13-month-old girl presenting with infantile spasm, developmental delay, and biochemical abnormalities. Biochemical analyses revealed persistent hypocalcemia, hyperlactatemia, and hypoparathyroidism. The report describes the patient's clinical course, including intractable epilepsy, anemia, and recurrent infections.

STUDY TYPE

case_report

SPECIALTY

neurology

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10791488

A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient

Global Medical Genetics

READ THE FULL PAPER

ABSTRACT

Background Aminoacyl-tRNA synthetases (ARSs) are evolutionarily conserved enzymes that ensure the accuracy of the translation process. Isoleucyl-tRNA synthetase 2 ( IARS2 ) gene is a type of ARS that encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease which involves several patients presenting broad clinical phenotypes. These clinical phenotypes include West syndrome, Leigh syndrome, and Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome. Only 29 cases have been reported worldwide. The patient manifested recurrent convulsions, and specific clinical manifestations included electrolyte disorders and recurrent infections. Methods Whole-exome sequencing was performed on the child with West syndrome. Three-dimensional structure reconstruction and thermodynamic stability prediction were performed to further analyze the relationship between variation and phenotype. Conclusion This study further expands the clinical spectrum of IARS2 pathogenic variants. The case summaries help raise clinical awareness of IARS2 -associated disease and reduce misdiagnosis. Result In this report, a 13-month-old girl was diagnosed with West syndrome and Leigh syndrome for 7 months. Compound heterozygous variants in the IARS2 gene ( NM_018060.4 ), c.2450G>A (Arg817His) and copy number variation ( NC_000001 . 11: g. (220267549_220284289) del), were detected by WES. This study further expands the clinical spectrum of IARS2 pathogenic variants. The case summaries help raise clinical awareness of IARS2-associated disease and reduce misdiagnosis.

CITATION EXPORT

Feiyu Zhou, Gui Yi, Xiangyu Liu et al.. A Pair of Compound Heterozygous
IARS2
Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient. Global Medical Genetics. (2024). https://doi.org/10.1055/s-0043-1778091

AUTHORS

7 · 5 CENTRES

Feiyu Zhou, Gui Yi, Xiangyu Liu, Wenchao Sheng, Jianbo Shu, Dong Li, Chunquan Cai

1Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, People's Republic of China
2Graduate College of Tianjin Medical University, Tianjin Medical University, Tianjin, People's Republic of China
3Department of Neurology, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, People's Republic of China
4Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin, People's Republic of China
5Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children's Hospital, Tianjin, Peoples' Republic of China