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This report reviews the limited evidence linking GPCPD1 [HGNC:26957] to 2q37 microdeletion syndrome [MONDO_0010886]. In a case described by a two‑year‑old Japanese boy, the clinical presentation included coarctation of the aorta (PMID:24755370) and global developmental delay (PMID:24755370). Array comparative genomic hybridization revealed an 8.2‑Mb deletion at 2q37.1 along with concurrent copy number duplications affecting multiple genes, including GPCPD1. While the genomic alteration of GPCPD1 was noted as a duplication, no discrete HGVS‐formatted coding variant was reported for this gene.
The genetic evidence is thus limited, being based on a single proband with overlapping CNVs, which complicates the determination of the individual contribution of GPCPD1 to the phenotype. No additional segregation data or independent case series with isolated variants in GPCPD1 are available, and direct functional studies linking GPCPD1 to the syndrome have not been performed. Key take‑home: Although current evidence is preliminary, careful follow‑up studies are needed to delineate the role of GPCPD1 in 2q37 microdeletion syndrome to ultimately support its clinical utility in diagnosis and management.
Gene–Disease AssociationLimitedDerived from a single proband with multiple concurrent CNVs including a duplication affecting GPCPD1; limited segregation data available (PMID:24755370). Genetic EvidenceLimitedOnly one case report with overlapping copy number variations exists and no discrete HGVS‐formatted variant for GPCPD1 was reported. Functional EvidenceLimitedNo direct functional studies have confirmed a mechanistic link between GPCPD1 disruption and 2q37 microdeletion syndrome. |