SciELO - Scientific Electronic Library Online

 
vol.24 suppl.1Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHPUtility of genetic panels based on ngs in the diagnosis of childhood epilepsies índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Nascer e Crescer

versão impressa ISSN 0872-0754

Nascer e Crescer vol.24  supl.1 Porto fev. 2015

 

POSTER ABSTRACTS / RESUMOS DE POSTERS

 

P-03

Recessive TTN truncating mutation define a novel antenatal severe form of “CAP-myopathy” in absence of heart disease

 

 

Ana Fernández-MarmiesseI; M. Carmen Carrascosa-RomeroII; Iria RocaI; Sofia GouveiaI; Mª Luz Couce PicoI

IHospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain
IINeuropediatric Unit, Complejo Universitario Hospitalario de Albacete, Albacete, Spain

amarmiesse@gmail.com

 

 

Background: Arthrogryposis     multiplex     congenital (AMC)  is  defined  as  multiple  congenital  non-progressive joint contractures involving more than one area of the body. Amyoplasia, is the most common type of arthrogryposis, characterized  by  a  generalized  replacement  of  skeletal muscle by dense fibrous tissue and fat. “CAP myopathy” is a rare congenital myopathy characterized by cap structures consisting of disarranged thin filaments with enlarged Z discs, located at the periphery of the muscle fiber. Four genes have been associated (ACTA1, TPM2, TPM3 and NEB). To date TTN gene has never been associated with “CAP-myopathy”.

Methods and results: We report a newborn presenting with  AMC,  severe  axial  hypotonia,  and  muscular  biopsy compatible with amyoplasia and “CAP-myopathy”. A novel homozygous truncating mutation (c.38661_38669del) in the PEVK segment of TTN gene was detected by targeted next generation sequencing assay.

Conclusion: We report for first time an association between TTN gene and “CAP-myopathy”, showing that mutations in this gene should be considered in all congenital myopathies even if cardiac involvement is absent. We show also the first described TTN mutation which leads to totally sarcomere disintegration and placed in an exon only transcribed in fetal period (isoform IC).

Keywords: Arthrogryposis multiplex congenital, amyoplasia, “CAP-myopathy”, targeted NGS, TTN-PEVK