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Article

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

American journal of medical genetics. Part A - 1 Apr 2017

Moosa Shahida, Haagerup Annette, Gregersen Pernille Axel, Petersen Karin Kastberg, Altmüller Janine, Thiele Holger, Nürnberg Peter, Cho Tae-Joon, Kim Ok-Hwa, Nishimura Gen, Wollnik Bernd, Vogel Ida

Abstract excerpt

Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA...

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Source

Identifiers

PMID: 28328135
DOI: 10.1002/ajmg.a.38116

Genes

IARS2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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