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In a cohort of 42 patients with periventricular nodular heterotopia (PNH), array comparative genomic hybridization identified copy number variants (CNVs) in seven genomic regions, including deletions encompassing ERMARD, in 15/42 (PMID:30683929) cases compared with 4/44 (PMID:30683929) in polymicrogyria, indicating a 5.6-fold enrichment for PNH when including ERMARD CNVs. At least one proband exhibited a deletion spanning ERMARD; however, inheritance and segregation data are unavailable, and variant-level details remain limited.
No functional studies have assessed ERMARD in the context of PNH. Mechanistic investigation is needed to establish haploinsufficiency or other pathogenic mechanisms. Pending additional case reports or experimental validation, ERMARD CNVs may be considered during diagnostic array-CGH for patients with PNH.
Key Take-home: ERMARD structural variants are candidate contributors to PNH, but current evidence remains limited.
Gene–Disease AssociationLimitedSingle structural variant affecting ERMARD in a PNH patient; no segregation or multiple probands (PMID:30683929) Genetic EvidenceLimitedLimited case-level data: one deletion spanning ERMARD in a PNH proband; no familial segregation or variant series Functional EvidenceNoneNo functional or experimental studies assessing ERMARD in PNH |