De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva
De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva
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DOI：
10.1007/s10038-006-0069-2
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发表时间：
2006-01-01
影响因子：
3.5
通讯作者：
Cheng, Yuh-Min
中科院分区：
文献类型：
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作者：
Lin, Gau-Tyan;Chang, Hsueh-Wei;Cheng, Yuh-Min
进行性纤维发育不良骨化症(FOP)是一种罕见的常染色体显性遗传的先天性疾病，以大脚趾畸形和出生后进行性异位软骨内成骨为特征。我们报告一例3岁女孩，由于先前的白喉-破伤风-百日咳免疫接种和几种不适当的手术干预，导致第一跖骨发育不良和进行性右大腿异位骨化。直接序列分析在患者身上发现了617G-A核苷酸突变，但在她的父母或兄弟中没有。家系分析表明，ACVR1基因的从头突变是导致该家族疾病的原因。这是首次报道一例台湾散发性FOP患者的突变分析结果。
Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal bones and progressive heterotopic ossificans of the right thigh due to previous diphtheria-tetanus-pertussis immunizations and several inappropriate surgical interventions. Direct sequence analysis identified a 617G-A nucleotide mutation in the patient but not in her parents or brother. Pedigree analysis suggests that a de novo mutation in the ACVR1 gene is responsible for the disease in this family. This is the first report of the results of a mutation analysis in a sporadic case of FOP in a Taiwanese patient.