■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。
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.