A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

• Tipo: Artigo em Revista Científica Internacional
• Data: 2013

Autores

Costa, C (Autor) Outra; Oliveira, J (Autor) Outra; Goncalves, A (Autor) Outra; Santos, R (Autor) Outra; Bronze da Rocha, E (Autor) FFUP; Rebelo, O (Autor) Outra; Pais, RP (Autor) Outra; Fineza, I (Autor) Outra

Revista

Título: Neuromuscular Disorders

Vol. 23

Páginas: 557-561

ISSN: 0960-8966

Editora: Elsevier

Indexação

ISI Web of Knowledge - 3 Citações

Scopus - 3 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-006-9FS

DOI: 10.1016/j.nmd.2013.03.005

Abstract (EN): Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive diseases among the Japanese population, due to a founder mutation of the fukutin gene (FKTN). Mutations in FKTN are now being described in an increasing number of non-Japanese patients. We report a Portuguese child with FCMD. The diagnosis was supported by clinical, histological, magnetic resonance imaging (MRI) and genetic studies. Genetic analysis of FKTN by Multiplex Ligation Probe Amplification (MLPA) revealed a homozygous duplication from exon 4 to exon 7. This in-frame duplication was confirmed by cDNA analysis. To our knowledge this is the first report of a FCMD case caused by an intragenic gross exonic duplication in the FKTN gene. This report widens the clinical and mutational spectrum in FCMD and corroborates the importance of screening for large deletions and duplications in CMD patients.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5