|
|||||
|
|
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype |
|
| Authors: | Yis Uluc Uyanik Gökhan Heck Pinar Bambul Smitka Martin Nobel Hannes Ebinger Friedrich Dirik Eray Feng Lucy Kurul Semra H Brocke Katja Unalp Aycan Özer Erdener Cakmakci Handan Sewry Caroline Cirak Sebahattin Muntoni Francesco Hehr Ute Morris-Rosendahl Deborah J |
| Institution: | a Gaziantep Children’s Hospital, Department of Pediatric Neurology, Gaziantep, Turkey b Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany c Abt. Neuropädiatrie, Universitätsklinikum Heidelberg, Germany d Department of Child Neurology, Institute and Outpatients for Diagnostic Radiology, University Clinic Carl G. Carus, Technical University, Dresden, Germany e Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany f Dubowitz Neuromuscular Centre, Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom g Behcet Uz Research and Educational Hospital, Department of Pediatric Neurology, Izmir, Turkey h Department of Pathology, School of Medicine, Dokuz Eylul University, Izmir, Turkey i Department of Radiology, School of Medicine, Dokuz Eylul University, Izmir, Turkey j Center for Human Genetics and Department of Human Genetics, University of Regensburg, Germany k Department of Pediatric Neurology, Dokuz Eylül University School of Medicine, Izmir, Turkey |
| Abstract: | Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-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 1D 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. |
| Keywords: | Congenital muscular dystrophy Fukutin mutation Walker-Warburg syndrome Fukuyama congenital muscular dystrophy FCMD FKTN |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |