2018
DOI: 10.1002/ajmg.a.40484
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Abstract: 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 along femoral, tibial, and humeral diaphyses. Parathyroid hormone (PTH) elevation (53.4-101 pmol/L… Show more

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Cited by 27 publications
(28 citation statements)
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References 19 publications
(22 reference statements)
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“…The skeletal abnormalities improved to varying extents over a longer timeframe during infancy. Our patient [12] showed more severe skeletal abnormalities than the other six cases, and much earlier in pregnancy. The variants in our case were different and the greater clinical severity is interpreted to have been the consequence of the different location of the pathogenic variants in this case compared to the other 6 causing more severe impact on TRPV6 protein function.…”
Section: (Continued From Previous Page)mentioning
confidence: 38%
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“…The skeletal abnormalities improved to varying extents over a longer timeframe during infancy. Our patient [12] showed more severe skeletal abnormalities than the other six cases, and much earlier in pregnancy. The variants in our case were different and the greater clinical severity is interpreted to have been the consequence of the different location of the pathogenic variants in this case compared to the other 6 causing more severe impact on TRPV6 protein function.…”
Section: (Continued From Previous Page)mentioning
confidence: 38%
“…Very recently in 2018, homozygous or compound heterozygous TRPV6 variants have been reported in seven infants with a skeletal disorder of antenatal-onset characterised by poor mineralisation [12,13]. All seven infants had biochemical abnormalities of secondary neonatal hyperparathyroidism which completely normalised over several weeks.…”
Section: (Continued From Previous Page)mentioning
confidence: 98%
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“…Interestingly, human infants with Trpv6 mutations present with a similar phenotype as our mice. Bone abnormalities are detected in utero and result in reduced mineralization and dysplasia of the fetal skeleton . The murine bone phenotype persists although the pups do not depend on placental Ca 2+ transfer after birth.…”
Section: Discussionmentioning
confidence: 99%
“…Bone abnormalities are detected in utero and result in reduced mineralization and dysplasia of the fetal skeleton. (35,36) The murine bone phenotype persists although the pups do not depend on placental Ca 2þ transfer after birth. TRPV6 expression has also been reported in mammary glands.…”
Section: Discussionmentioning
confidence: 99%