2021
DOI: 10.3389/fgene.2021.746949
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A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly

Abstract: Background: Polydactyly is a prevalent digit abnormality characterized by having extra digits/toes. Mutations in eleven known genes have been associated to cause nonsyndromic polydactyly: GLI3, GLI1, ZRS regulating LMBR1, IQCE, ZNF141, PITX1, MIPOL1, FAM92A, STKLD1, KIAA0825, and DACH1.Method: A single affected family member (IV-4) was subjected to whole-exome sequencing (WES) to identify the causal gene. Bi-directional Sanger sequencing was performed to segregate the identified variant within the family. In s… Show more

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Cited by 5 publications
(6 citation statements)
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“…Base on genetics, PAP‐A is further classified as PAPA1‐PAPA11 subtypes. There are 11 different types of PAP documented in the literature 2,3,11–13 …”
Section: Classificationmentioning
confidence: 99%
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“…Base on genetics, PAP‐A is further classified as PAPA1‐PAPA11 subtypes. There are 11 different types of PAP documented in the literature 2,3,11–13 …”
Section: Classificationmentioning
confidence: 99%
“…Postaxial polydactyly has been classified into 11 distinct classes (Table 1) based on genetic background and phenotypes. Mutations in seven genes ( ZNF141 , IQCE , GLI1 , FAM92A , GLI3 , KIAA0825 , and DACH1 ) have been associated with non‐syndromic postaxial polydactyly subtypes (PAPA1‐PAPA11) 11–13,15 . These genes regulate various signaling pathways that control the order of events in the development of embryological zones that play critical role in bone development at limb developmental stages 5 …”
Section: Classificationmentioning
confidence: 99%
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“…Homozygous LOF mutations in GLI1 cause postaxial polydactyly without any other symptoms; Polydactyly, postaxial, type A8; PAPA8 #618123 [ 114 ]. Also, heterozygous LOF mutations of GLI1 are a common finding in isolated postaxial polydactyly A/B [ 115 ].…”
Section: Miscellaneous Syndromes Related To Shh Pathwaysmentioning
confidence: 99%