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

doi:10.1111/cge.13962

Back to search

Article

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

Clinical genetics - 1 Jul 2021

Mardy Anne H, Hodoglugil Ugur, Yip Tiffany, Slavotinek Anne M

Abstract excerpt

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...

Topics

Adult
Alleles
Bardet-Biedl Syndrome
Child
Cytoskeletal Proteins
Exome
Fingers
Genetic Variation
Humans
Male
Phenotype
Polydactyly
RNA Splicing
Retina
Retinal Dystrophies
Toes
Exome Sequencing

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.