Dataset Information

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

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.

SUBMITTER: Culic V

PROVIDER: S-EPMC5061862 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Distal arthrogryposis with variable clinical expression caused by <i>TNNI2</i> mutation.

Čulić Vida V Miyake Noriko N Janković Sunčana S Petrović Davor D Šimunović Marko M Đapić Tomislav T Shiina Masaaki M Ogata Kazuhiro K Matsumoto Naomichi N

Human genome variation 20161013

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 <i>TNNI2</i> 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. ...[more]

PMID: 27790376

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Project description:In the amyoplasia type of arthrogryposis, a reverse pronated grasp pattern is often seen. We hypothesized that repositioning the hands, through distal humerus external rotation osteotomies (DHO), would allow for palm-to-palm grasp without arm cross-over and would improve function and parent/patient satisfaction.The medical records of all patients treated surgically for arthrogryposis were reviewed at the Shriners Hospital for Children, St. Louis, MO. From 2012 to 2014, 9 patients (14 extremities) had undergone a DHO. All patients had preoperative and postoperative video recordings of functional activities and we assessed functional changes after osteotomies. Preoperative upper extremity position was graded as 1, palms facing midline; 2, palm facing posterior; and 3, palms facing away from midline. Postoperative Pediatric Outcomes Data Collection Instrument (PODCI) questionnaires were obtained and parent satisfaction was evaluated.Mean patient age at the time of surgery was 6.5 years. Five patients underwent bilateral DHOs. All patients had 3 or fewer additional procedures on an upper extremity during the study period. All patients had an improved resting posture of the upper extremity after DHO surgery, with a mean change of 51° (range, 15°-90°). Grasp pattern was altered in 13 extremities; there was a change in hand position of at least 1 grade and 5 had complete change from 3 to 1, palms facing away from midline to facing toward midline. There was a wide range in postoperative PODCI scores for function, but Happiness scores were high, mean 89 (range, 60-100). Parents universally stated the procedure improved the child's function "a great deal." There were 2 complications: 1 periprosthetic humerus facture with recurrence of the internal rotation and 1 patient with scarring of the triceps requiring tenolysis.The DHO is an effective procedure for correcting the internal rotation position of the upper extremity in arthrogryposis and the surgery improves hand opposition with minimal complications. Universally, there was perceived improved function with high postoperative PODCI Happiness scores.Therapeutic V.

Dataset Information

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

Publications

Distal arthrogryposis with variable clinical expression caused by <i>TNNI2</i> mutation.

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