Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Abstract excerpt

Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. Syndactyly, brachydactyly, bone fragility, heart defects, and learning disabilities have also been reported. Loss-of-function variants in YY1AP1 have only recently been associated with Grange syndrome. YY1AP1 encodes for the transcription coactivator yin yang 1-associated protein 1 which regulates smooth...

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• Fetal and Pediatric Neurological Disorders
• Renal and Vascular Pathologies
• Tracheal and airway disorders