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Article

A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications.

Journal of human genetics - 1 Aug 2026

Unsel-Bolat Gul, Tezcan Neslihan, Genç-Akdağ Dilan, Gerik-Celebi Hamide Betül, Tezcan Alperen, Bolat Hilmi

Abstract excerpt

BACKGROUND: Grange syndrome is an ultra-rare autosomal recessive disorder caused by biallelic loss-of-function variants in the YY1AP1 gene. It is clinically characterized by multisystem involvement, including vascular stenosis, brachysyndactyly, osteopenia, cardiac anomalies, and neurodevelopmental delay. METHODS: Our case was followed up in the Child and Adolescent Psychiatry clinic with the diagnosis of...

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Identifiers

PMID: 41882341
DOI: 10.1038/s10038-026-01471-0
PMCID: PMC13400299

Genes

YY1AP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications.PMID 41882341Read ↗

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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.Semantic proximity Read ↗

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