An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

doi:10.1111/ahg.12437

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Article

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

Annals of human genetics - 1 Sept 2021

Koko Mahmoud, Yahia Ashraf, Elsayed Liena E, Hamed Ahlam A, Mohammed Inaam N, Elseed Maha A, Hamad Muddathir H A, Babai Arwa M, Siddig Rayan A, Abd Allah Amal S I, Mohamed Mayada, El-Amin Melka, Esteves Typhaine, Altmüller Janine, Toliat Mohammad Reza, Thiele Holger, Nürnberg Peter, Salih Mustafa A, Ahmed Ammar E, Lerche Holger, Stevanin Giovanni

Abstract excerpt

PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop-gain PRUNE1 variants were identified in its DHH and DHHA2 phosphodiesterase domains. Conversely, a single splice alteration was previously reported. We investigated five patients from two unrelated consanguineous Sudanese families with an inherited severe neurodevelopmental disorder using...

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PMID: 34111303
DOI: 10.1111/ahg.12437

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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