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Case Reports
. 2021 Jul;100(1):93-99.
doi: 10.1111/cge.13962. Epub 2021 Mar 27.

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74

Anne H Mardy  1 , Ugur Hodoglugil  2 , Tiffany Yip  3 , Anne M Slavotinek  3   4
Affiliations
Case Reports

Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74

Anne H Mardy et al. Clin Genet. 2021 Jul.

Abstract

Bardet-Biedl syndrome (BBS) is a rare ciliopathy characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity and renal anomalies with autosomal recessive inheritance. We describe a 6-year-old male with early onset retinal dystrophy, postaxial polydactyly, truncal obesity and motor delays. Exome sequencing revealed a homozygous variant predicted to affect splicing of the IFT74 gene, c.1685-1G > T. This is the third patient with BBS due to variants predicting loss of function in IFT74. All three patients have had retinal dystrophy, polydactyly, obesity, developmental differences, and a notable lack of renal anomalies. We recommend that IFT74 is added to gene panels for the diagnosis of BBS.

Keywords: Bardet-Biedl syndrome; IFT74; ciliopathy; obesity; polydactyly; retinal dystrophy.

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References

REFERENCES

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Supplementary concepts