Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy

Katalin Komlósi, Kinga Hadzsiev, Lutz Garbes, Lilian A. Martínez Carrera, Endre Pál, Jóhann Haukur Sigursson, Olafur Magnusson, Béla Melegh, Brunhilde Wirth

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

We describe a Hungarian Roma family, originally investigated for autosomal dominant distal muscular atrophy. The mother started toe walking at 3. years and lost ambulation at age 27. Her three daughters presented with early steppage gait and showed variable progression. Muscle biopsies were nonspecific showing myogenic lesions in the mother and lesions resembling neurogenic atrophy in the two siblings. To identify the causative abnormality whole exome sequencing was performed in two affected girls and their unaffected father, unexpectedly revealing the MYH7 mutation c.4849_4851delAAG (p.K1617del) in both girls, reported to be causative for Laing distal myopathy. Sanger sequencing confirmed the mutation in the affected mother and third affected daughter. In line with variable severity in Laing distal myopathy our patients presented a more severe phenotype. Our case is the first demonstration of Laing distal myopathy in the Roma and the successful use of whole exome sequencing in obtaining a definitive diagnosis in ambiguous cases.

Original languageEnglish
Pages (from-to)156-161
Number of pages6
JournalNeuromuscular Disorders
Volume24
Issue number2
DOIs
Publication statusPublished - Feb 1 2014

Keywords

  • Distal myopathy
  • Laing distal myopathy
  • MYH7
  • Myosinopathies
  • Whole exome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy'. Together they form a unique fingerprint.

  • Cite this