Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
TTD
aminoacyl tRNA synthetase
brittle hair
non-photosensitive trichothiodystrophy
protein translation
tiger tail
transcription
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
01 08 2019
01 08 2019
Historique:
received:
28
03
2019
accepted:
24
06
2019
entrez:
3
8
2019
pubmed:
3
8
2019
medline:
17
3
2020
Statut:
ppublish
Résumé
Brittle and "tiger-tail" hair is the diagnostic hallmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wide spectrum of clinical features including ichthyosis, intellectual disability, decreased fertility, and short stature. As a result of premature abrogation of terminal differentiation, the hair is brittle and fragile and contains reduced cysteine content. Hypersensitivity to UV light is found in about half of individuals with TTD; all of these individuals harbor bi-allelic mutations in components of the basal transcription factor TFIIH, and these mutations lead to impaired nucleotide excision repair and basal transcription. Different genes have been found to be associated with non-photosensitive TTD (NPS-TTD); these include MPLKIP (also called TTDN1), GTF2E2 (also called TFIIEβ), and RNF113A. However, a relatively large group of these individuals with NPS-TTD have remained genetically uncharacterized. Here we present the identification of an NPS-TTD-associated gene, threonyl-tRNA synthetase (TARS), found by next-generation sequencing of a group of uncharacterized individuals with NPS-TTD. One individual has compound heterozygous TARS variants, c.826A>G (p.Lys276Glu) and c.1912C>T (p.Arg638
Identifiants
pubmed: 31374204
pii: S0002-9297(19)30242-3
doi: 10.1016/j.ajhg.2019.06.017
pmc: PMC6698936
pii:
doi:
Substances chimiques
Transcription Factor TFIIH
148710-81-0
Threonine-tRNA Ligase
EC 6.1.1.3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
434-440Informations de copyright
Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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