Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I
复制标题
DOI：
10.1111/j.1399-0004.2005.00431.x
复制
发表时间：
2005-05-01
影响因子：
3.5
通讯作者：
Sakiyama, Y
中科院分区：
文献类型：
--
作者：
Fujioka, H;Ariga, T;Sakiyama, Y
人类GLI 3基因突变已在几种手指异常表型中被鉴定，如Greig头多指并指综合征、Pallister-Hall综合征、轴前多指IV型（proaxial polydactyly type-IV，PPD-IV）和轴后多指（postaxial polydactyly）。然而，GLI 3突变导致的不同表型尚未得到适当的定义。我们经历了两种类型的数字异常，没有其他复杂的发育缺陷，一个家庭与足部PPD-IV的第三和第四手指并指，和四个散发病例双指拇指多指（PPD-I）。负责第三和第四指并指畸形（并指畸形I型）和PPD-I的基因尚未确定;因此，我们研究了GLI 3基因参与这些亚型的数字异常。我们发现，在GLI 3基因的无义突变的家庭与足PPD-IV伴随手并指的第三和第四手指，但没有突变的GLI 3基因中检测到的其他4例PPD-I单独。因此，足部PPD-IV的表型伴随手的第三和第四指并指可能是由GLI 3突变引起的，而PPD-I表型单独不是由GLI 3基因缺陷引起的。这些结果将有助于定义最近提出的GLI 3形态病的表型谱。
Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. However, the different phenotypes resulting from GLI3 mutations have not yet been properly defined. We have experienced two types of digital abnormality without other complicating developmental defects; a family with foot PPD-IV with syndactyly of the third and fourth fingers, and four sporadic cases with biphalangeal thumb polydactyly (PPD-I). The genes responsible for syndactyly of the third and fourth fingers (syndactyly type-I) and PPD-I have not yet been identified; we therefore examined the involvement of the GLI3 gene in these subtypes of digital abnormality. We found a non-sense mutation in the GLI3 gene in the family with foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD-I alone. Thus, the phenotype of foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers may result from a GLI3 mutation, whereas the PPD-I phenotype alone is not caused by GLI3 gene defect. These results will help to define the phenotypic spectrum of GLI3 morphopathies, which have been recently proposed.