背景:编码VI型胶原蛋白的基因突变导致Bethlem肌病(MIM158810)和Ullrich先天性肌营养不良(MIM254090);以前被认为是完全独立的两种疾病,并且越来越得到认可。然而,由COL6基因内含子变异引起的胶原相关性肌病在中国很少报道。Ullrich先天性肌营养不良是一种常染色体隐性遗传疾病,可导致早期发作的严重肌肉无力。因此,孩子们可能永远不会独立行走,具有近端关节挛缩和明显的超弹性远端关节,并有早期呼吸衰竭。因此,及时诊断和治疗很重要。我们报告了COL6A2基因的自发突变,导致儿科患者Ullrich先天性肌营养不良1型。
方法:一个4岁的男孩不能独立行走,可以单独坐一会儿,他的运动发育延迟,并在1岁后消退。他有一个高的pal弓和一个贯穿手掌的局部横线从手掌横向延伸。肌电图显示神经源性受损,全外显子基因测序揭示了COL6A2基因的自发杂合突变(c.955-2A>G),根据医学遗传学学院的美国指南,该突变被确定为致病性突变。
方法:这个孩子的运动发育迟缓,高鱼鹰弓和贯穿手掌的局部横线从手掌横向延伸,1岁后运动发育消退。全外显子检查显示COL6A2基因自发突变;因此,患儿被诊断为UCMD1型.
方法:目前,这种疾病没有特殊的治疗方法,治疗主要是对症和支持。孩子接受了家庭按摩,康复训练,口服叶酸片,维生素和辅酶Q10。
结果:在随后的随访期间,患者现在可以单独坐一段时间。
结论:我们报告一例儿童患者COL6A2基因自发突变导致Ullrich先天性肌营养不良1型,扩大疾病的表型谱,丰富人类基因库。
BACKGROUND: Mutations in the gene encoding type VI collagen cause Bethlem myopathy (MIM 158810) and Ullrich congenital muscular dystrophy (MIM 254090); 2 diseases previously recognized as completely independent, and have been increasingly recognized. However, collagen-related myopathy caused by intron variation in the COL6 gene is rarely reported in
China. Ullrich congenital muscular dystrophy is an autosomal recessive disorder that leads to severe muscle weakness with early onset. Thus, children may never walk independently, with proximal joint contractures and significant hyperelastic distal joints, and have early respiratory failure. Therefore, timely diagnosis and treatment are important. We report a spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a pediatric patient.
METHODS: A boy aged 4 years was unable to walk independently, could sit alone for a short time, and his motor development was delayed and had regressed after 1 year of age. He had a high palatal arch and a through palm with localized transverse lines running laterally from the palm. Electromyography showed an impaired neurogenic source, and whole-exon gene sequencing revealed a spontaneous heterozygous mutation in the COL6A2 gene (c.955-2A>G), which was determined to be a pathogenic mutation according to the American Guidelines of the College of Medical Genetics.
METHODS: This child has a delayed motor development, high osprey arch and a through palm with localized transverse lines running laterally from the palm, and regression of motor development after the age of 1 year. Whole exon examination showed spontaneous mutation of the COL6A2 gene; thus, the child was diagnosed with UCMD type 1.
METHODS: At present, there is no special treatment for this disease, and treatment is mainly symptomatic and supportive. The child underwent home massage, rehabilitation training, oral folic acid tablets, vitamins and coenzyme Q10.
RESULTS: During the subsequent follow-up period, the patient can now sit alone for a short period of time.
CONCLUSIONS: We report a case of spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a pediatric patient, expanding the phenotypic spectrum of the disease and enriching the human gene pool.