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Article

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

American journal of medical genetics. Part A - 1 Sept 2018

Burren Christine P, Caswell Richard, Castle Bruce, Welch C Ross, Hilliard Tom N, Smithson Sarah F, Ellard Sian

Abstract excerpt

Transient receptor potential vanilloid 6 (TRPV6) functions in tetramer form for calcium transport. Until now, TRPV6 has not been linked with skeletal development disorders. An infant with antenatal onset thoracic insufficiency required significant ventilatory support. Skeletal survey showed generalized marked undermineralization, hypoplastic fractured ribs, metaphyseal fractures, and extensive periosteal reaction...

Topics

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Bone Diseases, Developmental
Calcium Channels
Comparative Genomic Hybridization
Exome
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

TRPV Cation Channels

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Identifiers

PMID: 30144375
DOI: 10.1002/ajmg.a.40484
PMCID: PMC6563443

Genes

TRPV6
PTH
CASR
GNA11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.PMID 30144375Read ↗

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.Semantic proximity Read ↗

Mutations That Affect the Surface Expression of TRPV6 Are Associated with the Upregulation of Serine Proteases in the Placenta of an Infant.Semantic proximity Read ↗

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Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.Semantic proximity Read ↗

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