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. 2020 Jul;60(4):115-119.
doi: 10.1111/cga.12361. Epub 2019 Oct 29.

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

Maryam Yousaf  1 , Asmat Ullah  2   3 , Zahid Azeem  4 , Ayesha Isani Majeed  5 , Muhammad Iqbal Memon  6 , Tahseen Ghous  7 , Sulman Basit  8 , Wasim Ahmad  2
Affiliations

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly

Maryam Yousaf et al. Congenit Anom (Kyoto). 2020 Jul.

Abstract

Polydactyly is one of the most common congenital abnormal phenotype of autopod, which is characterized by extra supernumerary digit in hands/feet with or without well-developed bony structure within the digits. Preaxial polydactyly (PPD), postaxial polydactyly (PAP), and meso-axial (central) polydactyly are three different isoforms of polydactyly. Genetically, at least 10 genes have been identified causing nonsyndromic polydactyly. In the present study, we have investigated a large family segregating autosomal dominant form of nonsyndromic polydactyly. Whole exome sequencing followed by Sanger sequencing revealed a novel heterozygous missense variant (NM_005269.3; c.1064C>A; p.(Thr355Asn) in the gene GLI1 segregating with the disease phenotype within the family. This study presents first familial case of autosomal dominant form of polydactyly caused by the GLI1 variant.

Keywords: GLI1; autosomal dominant postaxial polydactyly; novel sequence variant; whole exome sequencing.

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References

REFERENCES

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