Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2010-12, Vol.5 (1), p.35-35, Article 35
Main Authors: Böhm, Johann, Yiş, Uluç, Ortaç, Ragıp, Cakmakçı, Handan, Kurul, Semra Hız, Dirik, Eray, Laporte, Jocelyn
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
Adaptor Proteins, Signal Transducing - genetics
Adolescent
Care and treatment
Case Report
Case studies
Codon, Nonsense
Consanguinity
Diagnosis
Female
Gene mutations
Genes, Recessive
Genetics
Health aspects
Humans
Life Sciences
Male
Medical research
Muscle diseases
Muscle Weakness
Muscle Weakness - genetics
Muscle Weakness - physiopathology
Myopathies, Structural, Congenital
Myopathies, Structural, Congenital - genetics
Myopathies, Structural, Congenital - physiopathology
Nuclear Proteins
Nuclear Proteins - genetics
Rare diseases
Risk factors
Tumor Suppressor Proteins
Tumor Suppressor Proteins - genetics
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Summary:Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation. In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects. We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.
ISSN:1750-1172
1750-1172
DOI:10.1186/1750-1172-5-35