Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype |
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| Authors: | S. Vuillaumier-Barrot S. Quijano-Roy C. Bouchet-Seraphin S. Maugenre S. Peudenier P. Van den Bergh P. Marcorelles D. Avila-Smirnow M. Chelbi N.B. Romero R.Y. Carlier B. Estournet P. Guicheney N. Seta |
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| Affiliation: | 1. Medical Molecular Genetics Department, Human Genetics & Genome Research Division, National Research Center, Cairo, Egypt;2. Université Tunis El Manar, Tunis 1068, Tunisia;3. Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Institut Pasteur de Tunis, Tunis 1002, Tunisia;4. Dermatology Department, Faculty of Medicine, Cairo University, Egypt;5. Clinical Genetics Department, Human Genetics & Genome Research Division, National Research Center, Cairo, Egypt;1. Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA;2. Departments of Internal Medicine and Orthopaedic Surgery, University of Nebraska Medical Center, Omaha, NE, USA;3. Children''s Hospital and Medical Center, Omaha, NE, USA;4. Departments of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada |
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| Abstract: | Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker–Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially isolated in one case and muscular dystrophy. Immunohistochemical studies and haplotype analysis led us to search for mutations in FKTN. Two patients (two sisters) presented with congenital muscular dystrophy, mental retardation, and posterior fossa malformation including cysts, and brain atrophy at Brain MRI. The other two patients had normal intelligence and brain MRI. Sequencing of the FKTN gene identified three previously described mutations and two novel missense mutations. Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP. |
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