Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype
| Autor: | Hannes Nobel, Aycan Ünalp, Sebahattin Cirak, Uluç Yiş, Pinar Bambul Heck, Gökhan Uyanik, Friedrich Ebinger, Lucy Feng, Deborah J. Morris-Rosendahl, Semra Hız Kurul, Francesco Muntoni, Ute Hehr, Erdener Özer, Eray Dirik, Martin Smitka, Katja Brocke, Handan Cakmakci, Caroline Sewry |
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| Rok vydání: | 2011 |
| Předmět: |
Male
musculoskeletal diseases Genotype DNA Mutational Analysis Gene mutation Severity of Illness Index Muscular Dystrophies Cerebellum Fukuyama congenital muscular dystrophy Humans Medicine Muscular dystrophy Muscle Skeletal Walker–Warburg syndrome Genetics (clinical) Neurologic Examination Genetics Cobblestone Lissencephaly business.industry Infant Membrane Proteins Walker-Warburg Syndrome Exons medicine.disease Magnetic Resonance Imaging Fukutin Introns Phenotype Neurology Child Preschool Mutation Pediatrics Perinatology and Child Health Congenital muscular dystrophy Female Neurology (clinical) business |
| Zdroj: | Neuromuscular Disorders. 21:20-30 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2010.08.007 |
| Popis: | Six genes including POMT1, POMT2, POMGNTI, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of alpha-dystroglycan (alpha-DG). Abnormal glycosylation of alpha-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and ID and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described. (C) 2010 Elsevier B.V. All rights reserved. |
| Databáze: | OpenAIRE |
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