Article
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.
Journal of medical genetics - 26 Aug 2026
Hertstein Erik, Bertrand Miriam, Kopp Johannes, Sczakiel Henrike Lisa, Küchler Oliver, von Kügelgen Nicolai, Fischer-Zirnsak Björn, Hildebrand Gabriele, Leubner Jonas, Horn Denise, Mundlos Stefan, Haack Tobias B, Kaindl Angela, Korenke Christoph G, Boschann Felix
Abstract excerpt
BACKGROUND: Neurodevelopmental disorders are one of the most prevalent reasons for genetic testing in childhood. Despite the identification of over 1950 associated genes, many proposed candidate genes lack convincing gene-disease validity. The gene PREP encodes the broadly expressed prolyl endopeptidase whose exact function remains largely unknown. A homozygous PREP variant has been reported once as a candidate...
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