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This summary describes the association between SLC12A7 (HGNC:10915) and congenital hydrocephalus (MONDO:0016349). In a study using whole exome sequencing, a de novo copy number variant (CNV) deletion in SLC12A7 was identified in a sporadic case of congenital hydrocephalus (PMID:31393094). Although only one proband was reported and no additional affected relatives were available for segregation analysis, the finding raises biologically plausible links given the gene’s role in ion transport mechanisms critical for neural fluid homeostasis.
While the genetic evidence is limited, functional studies in related KCC family members support the general concept that impairments in ion transport can contribute to neural developmental disorders. However, there are no CH‑specific functional experiments for SLC12A7 and the mechanistic basis (e.g., haploinsufficiency) remains to be directly tested. Key take‑home: Despite the limited current evidence, the detection of a de novo CNV in SLC12A7 suggests that further research into ion transporter dysfunction may enhance diagnostic decision‑making and ultimately guide therapeutic interventions for congenital hydrocephalus.
Gene–Disease AssociationLimited1 proband (PMID:31393094) with a de novo CNV deletion in SLC12A7 and no additional segregation or replication evidence. Genetic EvidenceLimitedA single de novo CNV deletion in SLC12A7 was reported in a sporadic congenital hydrocephalus case (PMID:31393094), with no further corroboration from additional cases or families. Functional EvidenceLimitedWhile studies in related KCC family members support the role of ion transport in neural development, no direct functional assays for SLC12A7 in congenital hydrocephalus have been reported. |