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Article

A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.

American journal of medical genetics. Part A - 1 Sept 2026

Akalın Akçahan, Öz Veysel, Pınarbaşı Ayşe Seda, Özalkak Şervan, Karaca Mehmet Salih, Yıldırım Ruken

Abstract excerpt

Grange syndrome is a rare early-onset multisystem disorder characterized by multifocal steno-occlusive arterial disease, bone fragility, congenital cardiac anomalies, skeletal manifestations, and intellectual disability, caused by biallelic loss-of-function variants in YY1AP1. We report eight affected individuals (six females, two males) from a single consanguineous family. Molecular analysis included exome...

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Source

Identifiers

PMID: 41998823
DOI: 10.1002/ajmg.a.70170

Genes

YY1AP1
CLMP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.PMID 41998823Read ↗

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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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