Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.
| Autor: | Tamhankar V; Genetics, Centre for Medical Genetics, Mumbai, IND.; Genetics, MedGenome Labs, Bengaluru, IND., Tamhankar P; Genetics, MedGenome Labs, Bengaluru, IND.; Genetics, Centre for Medical Genetics, Mumbai, IND., Chaubal R; Radiology, Thane Ultrasound Centre, Thane, IND., Chaubal J; Radiology, Thane Ultrasound Centre, Thane, IND., Chaubal N; Radiology, Thane Ultrasound Centre, Thane, IND. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Nov 17; Vol. 13 (11), pp. e19682. Date of Electronic Publication: 2021 Nov 17 (Print Publication: 2021). |
| DOI: | 10.7759/cureus.19682 |
| Abstrakt: | The THOC2 gene encodes THO complex subunit 2, a subunit of the Transcription-Export (TREX) complex which binds specifically to splice messenger ribonucleic acid (mRNAs) to facilitate mRNA export. Mutations in the THOC2 gene have been described to lead to X-linked mental retardation syndrome type 12/35 (XLMR-12/35) (MIM#300957). Here, we describe for the first time a recurrent arthrogryposis multiplex congenita phenotype (AMC) in two male fetuses in a family. Exome sequencing identified a novel pathogenic variation chrX: 122761817_122761820delTGAC (genome assembly GRCh37 format) or c.2482-1_2484delGTCA (as per Genbank transcript ID NM_001081550) in the THOC2 gene. This variant affects the consensus acceptor splice site between intron 22 and exon 23. This is the most severe phenotype described in THOC2 gene-related disease till date. This case report expands the clinical phenotype of THOC2 gene related defects. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Tamhankar et al.) |
| Databáze: | MEDLINE |
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