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

doi:10.1038/hgv.2016.35

Pregled bibliografske jedinice broj: 1050630

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;

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation // Human Genome Variation, 3 (2016), 16035, 4 doi:10.1038/hgv.2016.35 (međunarodna recenzija, prikaz, znanstveni)

CROSBI ID: 1050630 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

Autori
Čulić, Vida ; Miyake, Noriko ; Janković, Sunčana ; Petrović, Davor ; Šimunović, Marko ; Đapić, Tomislav ; Shiina, Masaaki ; Ogata, Kazuhiro ; Matsumoto, Naomichi ;

Izvornik
Human Genome Variation (2054-345X) 3 (2016); 16035, 4

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

Ključne riječi
Distal arthrogryposis ; children ;

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA

Ustanove:
KBC Split,
Medicinski fakultet, Split

Profili:

Tomislav Đapić (autor)