Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Todd E. J., Yau K. S., Ong R., Slee J., McGillivray G., Barnett C. P., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.10, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1186/s13023-015-0364-0
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Fetal hypokinesia, Arthrogryposis, Next generation sequencing, Congenital myopathy, Nemaline myopathy, ARTHROGRYPOSIS MULTIPLEX CONGENITA, FETAL AKINESIA, ACETYLCHOLINE-RECEPTOR, MYASTHENIC SYNDROME, NEMALINE MYOPATHY, NEBULIN GENE, CLINICAL-FEATURES, MUTATION CAUSES, PHENOTYPE, SUBUNIT
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual's DNA can now be analysed through "whole" exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.