PDF(Pubmed)
Abstract：
UNASSIGNED: GLI3 gene mutations can result in various forms of polysyndactyly, such as Greig cephalopolysyndactyly syndrome (GCPS, MIM: #175700), Pallister-Hall syndrome (PHS, MIM: #146510), and isolated polydactyly (IPD, MIM: #174200, #174700). Reports on IPD-associated GLI3 mutations are rare. In this study, a novel GLI3 mutation was identified in a Chinese family with IPD.
UNASSIGNED: We report a family with six members affected by IPD. The family members demonstrated several special phenotypes, including sex differences, abnormal finger joint development, and different polydactyly types. We identified a novel frameshift variant in the GLI3 gene (NM_000168.6: c.1820_1821del, NP_000159.3: p.Tyr607Cysfs*9) by whole-exome sequencing. Further analysis suggested that this mutation was the cause of polydactyly in this family.
UNASSIGNED: The discovery of this novel frameshift variant in our study further solidifies the relationship between IPD and GLI3 and expands the previously established spectrum of GLI3 mutations and associated phenotypes.
UNASSIGNED: We report a family with six members affected by IPD. The family members demonstrated several special phenotypes, including sex differences, abnormal finger joint development, and different polydactyly types. We identified a novel frameshift variant in the GLI3 gene (NM_000168.6: c.1820_1821del, NP_000159.3: p.Tyr607Cysfs*9) by whole-exome sequencing. Further analysis suggested that this mutation was the cause of polydactyly in this family.
UNASSIGNED: The discovery of this novel frameshift variant in our study further solidifies the relationship between IPD and GLI3 and expands the previously established spectrum of GLI3 mutations and associated phenotypes.
摘要：
■GLI3基因突变可导致各种形式的多指，如Greig头孢多症综合征(GCPS，MIM:#175700),Pallister-Hall综合征（PHS，MIM:#146510),和孤立的多指(IPD，MIM:#174200,#174700)。关于IPD相关GLI3突变的报道很少。在这项研究中,在一个患有IPD的中国家庭中发现了一个新的GLI3突变。
■我们报告了一个有六个成员受IPD影响的家庭。家庭成员表现出几种特殊的表型，包括性别差异,手指关节发育异常，和不同的多指类型。我们在GLI3基因中发现了一个新的移码变体（NM_000168.6：c.1820_1821del，NP_000159.3：p.Tyr607Cysfs*9）通过全外显子组测序。进一步分析表明，该突变是该家族多指的原因。
■在我们的研究中发现这种新颖的移码变体进一步巩固了IPD与GLI3之间的关系，并扩展了先前建立的GLI3突变和相关表型的谱。
■我们报告了一个有六个成员受IPD影响的家庭。家庭成员表现出几种特殊的表型，包括性别差异,手指关节发育异常，和不同的多指类型。我们在GLI3基因中发现了一个新的移码变体（NM_000168.6：c.1820_1821del，NP_000159.3：p.Tyr607Cysfs*9）通过全外显子组测序。进一步分析表明，该突变是该家族多指的原因。
■在我们的研究中发现这种新颖的移码变体进一步巩固了IPD与GLI3之间的关系，并扩展了先前建立的GLI3突变和相关表型的谱。
