{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yap P"],"funding":["Department of Health | National Health and Medical Research Council (NHMRC)"],"pagination":["125-129"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10772071"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(1)"],"pubmed_abstract":["ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism. Proband-parent trio exome sequencing identified compound heterozygous ATP2B1 variants: a maternally inherited splice-site (c.3060+2 T > G) and paternally inherited missense c.2938 G > T; p.(Val980Leu). Reverse-transcription-PCR"],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism."],"pmcid":["PMC10772071"],"funding_grant_id":["APP1136197"],"pubmed_authors":["Riley LG","Alburaiky S","Rahimi MJ","Le Quesne Stabej P","Curran B","Oppermann H","Print C","Cooper ST","Bohlander SK","Kakadia PM","Hayes I","Yap P"],"additional_accession":[]},"is_claimable":false,"name":"Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.","description":"ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism. Proband-parent trio exome sequencing identified compound heterozygous ATP2B1 variants: a maternally inherited splice-site (c.3060+2 T > G) and paternally inherited missense c.2938 G > T; p.(Val980Leu). Reverse-transcription-PCR","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2026-06-12T05:51:39.986Z","creation":"2025-04-03T21:31:04.263Z"},"accession":"S-EPMC10772071","cross_references":{"pubmed":["37926713"],"doi":["10.1038/s41431-023-01484-9"]}}