Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

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 t...

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Autores principales: Čulić, Vida, Miyake, Noriko, Janković, Sunčana, Petrović, Davor, Šimunović, Marko, Đapić, Tomislav, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061862/
https://www.ncbi.nlm.nih.gov/pubmed/27790376
http://dx.doi.org/10.1038/hgv.2016.35
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author Čulić, Vida
Miyake, Noriko
Janković, Sunčana
Petrović, Davor
Šimunović, Marko
Đapić, Tomislav
Shiina, Masaaki
Ogata, Kazuhiro
Matsumoto, Naomichi
author_facet Čulić, Vida
Miyake, Noriko
Janković, Sunčana
Petrović, Davor
Šimunović, Marko
Đapić, Tomislav
Shiina, Masaaki
Ogata, Kazuhiro
Matsumoto, Naomichi
author_sort Čulić, Vida
collection PubMed
description 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.
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spelling pubmed-50618622016-10-27 Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation Čulić, Vida Miyake, Noriko Janković, Sunčana Petrović, Davor Šimunović, Marko Đapić, Tomislav Shiina, Masaaki Ogata, Kazuhiro Matsumoto, Naomichi Hum Genome Var Data Report 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. Nature Publishing Group 2016-10-13 /pmc/articles/PMC5061862/ /pubmed/27790376 http://dx.doi.org/10.1038/hgv.2016.35 Text en Copyright © 2016 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ 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 the material 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/
spellingShingle Data Report
Čulić, Vida
Miyake, Noriko
Janković, Sunčana
Petrović, Davor
Šimunović, Marko
Đapić, Tomislav
Shiina, Masaaki
Ogata, Kazuhiro
Matsumoto, Naomichi
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
title Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
title_full Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
title_fullStr Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
title_full_unstemmed Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
title_short Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
title_sort distal arthrogryposis with variable clinical expression caused by tnni2 mutation
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061862/
https://www.ncbi.nlm.nih.gov/pubmed/27790376
http://dx.doi.org/10.1038/hgv.2016.35
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