2020
DOI: 10.1186/s12881-020-01007-z
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Abstract: Background: The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been associated with an antenatally severe under-mineralising skeletal dysplasia accompanied by postnatal biochemical abnormalities. This is the first post-mortem report in a patient with TRPV6 skeletal dysplasia. Case presentation: The female infant had severe antenatal and postnatal skeletal abnorm… Show more

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Cited by 9 publications
(4 citation statements)
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“…The genotype of the maternal part of the placenta is responsible for the pronounced effect on the bone mineralization because the offspring of homozygous Trpv6- deficient females are much more affected than the offspring from heterozygous females [ 1 ]. This is consistent with case reports in humans, where mutations in the Trpv6 gene lead to the hereditary human disease transient neonatal hyperparathyroidism (HRPTTN, OMIM #618188) associated with skeletal abnormalities, dysplasia, and elevated neonatal parathyroid hormone levels [ 14 , 15 , 16 , 17 , 18 ]. Those authors conclude, that similar to the Trpv6 mouse model [ 1 ], Trpv6 mutations in the maternal and fetal parts of the placenta greatly reduce maternal/fetal calcium transport, thereby affecting infant skeletal development and mineralization.…”
Section: Introductionsupporting
confidence: 91%
“…The genotype of the maternal part of the placenta is responsible for the pronounced effect on the bone mineralization because the offspring of homozygous Trpv6- deficient females are much more affected than the offspring from heterozygous females [ 1 ]. This is consistent with case reports in humans, where mutations in the Trpv6 gene lead to the hereditary human disease transient neonatal hyperparathyroidism (HRPTTN, OMIM #618188) associated with skeletal abnormalities, dysplasia, and elevated neonatal parathyroid hormone levels [ 14 , 15 , 16 , 17 , 18 ]. Those authors conclude, that similar to the Trpv6 mouse model [ 1 ], Trpv6 mutations in the maternal and fetal parts of the placenta greatly reduce maternal/fetal calcium transport, thereby affecting infant skeletal development and mineralization.…”
Section: Introductionsupporting
confidence: 91%
“…An affected child who exhibits mutations within the TRPV6 gene was recently analysed using whole exome sequencing [ 13 , 14 ]. The child showed a pronounced dysplasia of the skeleton and died after several months.…”
Section: Resultsmentioning
confidence: 99%
“…The human TRPV6 protein is expressed in a few tissues, e.g., pancreatic acini and the trophoblast layer of the placenta. Several recent studies describe new born children who suffer from hyperparathyroidism with undermineralized bones [ 13 , 14 , 15 , 16 , 17 ]. However, the underlying cause of the disease seems to be the TRPV6 gene.…”
Section: Discussionmentioning
confidence: 99%
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