Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
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DOI：
10.1016/j.ophtha.2007.07.029
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发表时间：
2007-11-01
期刊：
影响因子：
13.7
通讯作者：
Yee, Richard W
中科院分区：
文献类型：
--
作者：
Zhao, Xinping C;Nakamura, Hisashi;Yee, Richard W
目的：鲍曼层角膜营养不良 (CDB) 包括 2 种不同类型：CDB1 或 Reis-Bucklers (RBCD) 和 CDB2 或 Thiel-Behnke (TBCD)。我们研究了 2 例明显自发 CDB 突变的遗传基础，并试图确定这些突变是否为散发性和可遗传性突变。设计：回顾性分子遗传学研究和病例报告。参与者：本研究从 2 个不相关的家庭招募了 12 名患者，其中一个家庭（A 家庭）有 2 名受影响个体，另一个家庭（B 家庭）有 1 名受影响个体。方法：对每位患者进行裂隙灯检查以确定疾病表型。对受影响的角膜标本进行组织学分析，以鉴定 A 家族 2 名受影响患者的致病性角膜混浊。 主要观察指标：从血液样本中分离基因组 DNA，并用于 TGFBI/BIGH3 基因的突变筛查。利用来自9条不同染色体的16个多态性DNA标记来确定2个先证者的母子关系和父子关系。结果：证实2个家庭没有血缘关系。眼部症状出现的年龄为
PURPOSE: Bowman's layer corneal dystrophies (CDBs) include 2 distinct types: CDB1, or Reis-Bucklers (RBCD), and CDB2, or Thiel-Behnke (TBCD). We studied the genetic basis of 2 cases of apparent spontaneous CDB mutations and attempted to determine if these are sporadic and inheritable mutations.DESIGN: Retrospective molecular genetic study and case report.PARTICIPANTS: Twelve patients were recruited from 2 unrelated families for this study, including 2 affected individuals from one family (family A) and 1 affected individual from another (family B).METHODS: Slit-lamp examination was performed for each patient to determine the disease phenotype. Histological analysis of affected cornea specimens was used for identification of pathogenic corneal opacities in 2 affected patients from family A.MAIN OUTCOME MEASURES: Genomic DNA was isolated from the blood samples and used for mutation screening of the TGFBI/BIGH3 gene. Sixteen polymorphic DNA markers from 9 different chromosomes were used to establish the maternity and paternity of the 2 probands.RESULTS: The 2 families were confirmed to be unrelated. The age onset of ocular symptoms was