TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

• Published in: American journal of human genetics Vol. 102; no. 6; pp. 1104 - 1114
• Main Authors: Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 07.06.2018; Elsevier
• Subjects: Adult; autosomal recessive; Base Sequence; calcium; Calcium - metabolism; Calcium Channels - genetics; Female; Fetus - metabolism; HEK293 Cells; Humans; hyperparathyroidism; Hyperparathyroidism - blood; Hyperparathyroidism - diagnostic imaging; Hyperparathyroidism - genetics; Infant, Newborn; Ion Transport; Male; Maternal-Fetal Exchange; Mutation - genetics; neonatal; Pedigree; placenta; Placenta - metabolism; Pregnancy; skeletal; transient; TRPV Cation Channels - genetics; TRPV6; calcium; TRPV6; transient; skeletal; neonatal; placenta; hyperparathyroidism; autosomal recessive

Transient neonatal hyperparathyroidism (TNHP) is etiologically a heterogeneous condition. One of the etiologies is an insufficient maternal-fetal calcium transport through the placenta. We report six subjects with homozygous and/or compound-heterozygous mutations in the gene encoding the transient r...