Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero N B, Carlier R Y, Estournet B, Guicheney P, Seta N
AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 46 rue Henri Huchard, Paris 75018, France.
Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005.
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.
福山型先天性肌营养不良（FCMD）在日本较为常见，这是由于福金蛋白基因（FKTN）的奠基者突变所致。在日本以外地区，仅在少数患者中报道过FKTN突变，这些患者表现出从沃克-沃尔堡综合征到肢带型肌营养不良（LGMD2M）的广泛表型。我们研究了来自三个无关家庭的四名新的白种人患者。所有患者最初均表现为血清肌酸激酶（CK）升高（其中一例为孤立性升高）以及肌营养不良。免疫组织化学研究和单倍型分析促使我们在FKTN中寻找突变。两名患者（两姐妹）表现为先天性肌营养不良、智力发育迟缓以及后颅窝畸形（包括囊肿），脑部磁共振成像（MRI）显示有脑萎缩。另外两名患者智力正常且脑部MRI检查结果正常。对FKTN基因进行测序发现了三个先前描述过的突变以及两个新的错义突变。在日本以外地区，福金蛋白病与从孤立性高CK血症到严重先天性肌营养不良的广泛表型相关，与FKRP相关疾病表现出明显重叠。
