Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.

BMC pediatrics - 7 Jun 2022

Zou Ting-Ting, Sun Hua-Qin, Zhu Yu, He Tian-Tian, Ling Wen-Wu, Zhu Hong-Mei, Lin Zi-Yuan, Liu Yan-Yan, Liu Shan-Ling, Wang He, Zhang Xue-Mei

Abstract excerpt

BACKGROUND: Aminoacyl-tRNA synthetases (ARSs) are enzymes responsible for attaching amino acids to tRNA, which enables protein synthesis. Mutations in isoleucyl-tRNA synthetase (IARS1) have recently been reported to be a genetic cause for growth retardation, intellectual disability, muscular hypotonia, and infantile hepatopathy (GRIDHH). CASE PRESENTATION: In this study, we reported an additional case of compound...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to China
Share to Growth Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Liver Failure

Share to Muscle Hypotonia

Share to Mutation

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 35668413
DOI: 10.1186/s12887-022-03371-6
PMCID: PMC9172121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.PMID 35668413Read ↗

Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.Semantic proximity Read ↗

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.Semantic proximity Read ↗

Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.Semantic proximity Read ↗

A pair of compound heterozygous IARS2 variants manifesting West syndrome and electrolyte disorders in a Chinese patientSemantic proximity Read ↗

[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].Semantic proximity Read ↗

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.Semantic proximity Read ↗

Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.Semantic proximity Read ↗

Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.Semantic proximity Read ↗

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.Semantic proximity Read ↗

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.Semantic proximity Read ↗

Aminoacyl-tRNA synthetase deficiencies in search of common themes.Semantic proximity Read ↗

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.