Liskova Petra, Klintworth Gordon K, Bowling Brandy L, Filipec Martin, Jirsova Katerina, Tuft Stephen J, Bhattacharya Shomi S, Hardcastle Alison J, Ebenezer Neil D
Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK.
Ophthalmic Res. 2008;40(2):105-8. doi: 10.1159/000115325. Epub 2008 Feb 6.
To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.
The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed.
A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified.
The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.
评估捷克裔常染色体显性遗传性角膜营养不良患者中转化生长因子β诱导（TGFBI）基因的突变情况。
对来自7个明显无亲缘关系家庭的22名患角膜营养不良的捷克个体进行TGFBI基因编码序列分析，并对表型与基因型进行比较。
在一个患有浅表地图状角膜混浊的家庭中检测到H626P突变，该突变此前仅在一个患有格子状角膜营养不良（LCD）变异型的家庭中被描述过。对2例在进行浅表角膜切除术或角膜移植术前采集的样本进行光学显微镜检查，发现有淀粉样物质，但未发现嗜品红沉积物。在一个I型LCD家庭中，鉴定出R124C突变。在2个家庭中，R124L突变被证明是Reis-Bucklers角膜营养不良的病因。一个患有蒂尔-本克角膜营养不良的家庭表现出R555Q突变。在2个I型颗粒状角膜营养不良家庭中，鉴定出典型的R555W变化。
携带H626P突变的家庭的表型与此前报道的该突变表型不同。
