Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

Čulić, Vida and Miyake, Noriko and Janković, Sunčana and Petrović, Davor and Šimunović, Marko and Đapić, Tomislav and Shiina, Masaaki and Ogata, Kazuhiro and Matsumoto, Naomichi (2016) Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Human Genome Variation, 3. p. 16035. ISSN 2054-345X

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Abstract

Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.

Item Type: Article
Additional Information: This work is licensed under a Creative Commons Attribution- NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if thematerial is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http:// creativecommons.org/licenses/by-nc-nd/4.0/ © The Author(s) 2016
Departments: Katedra za ortopediju
Depositing User: Martina Žužak
Status: Published
Creators:
CreatorsEmail
Čulić, VidaUNSPECIFIED
Miyake, NorikoUNSPECIFIED
Janković, SunčanaUNSPECIFIED
Petrović, DavorUNSPECIFIED
Šimunović, MarkoUNSPECIFIED
Đapić, TomislavUNSPECIFIED
Shiina, MasaakiUNSPECIFIED
Ogata, KazuhiroUNSPECIFIED
Matsumoto, NaomichiUNSPECIFIED
Date: 13 October 2016
Date Deposited: 04 Oct 2017 09:17
Last Modified: 17 Aug 2020 07:10
Subjects: UNSPECIFIED
Related URLs:
URI: http://medlib.mef.hr/id/eprint/2682

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