Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

doi:10.1016/j.ajhg.2020.02.007

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Article

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

American journal of human genetics - 5 Mar 2020

Schottlaender Lucia V, Abeti Rosella, Jaunmuktane Zane, Macmillan Carol, Chelban Viorica, O'Callaghan Benjamin, McKinley John, Maroofian Reza, Efthymiou Stephanie, Athanasiou-Fragkouli Alkyoni, Forbes Raeburn, Soutar Marc P M, Livingston John H, Kalmar Bernardett, Swayne Orlando, Hotton Gary, Pittman Alan, Mendes de Oliveira João Ricardo, de Grandis Maria, Richard-Loendt Angela, Launchbury Francesca, Althonayan Juri, McDonnell Gavin, Carr Aisling, Khan Suliman, Beetz Christian, Bisgin Atil, Tug Bozdogan Sevcan, Begtrup Amber, Torti Erin, Greensmith Linda, Giunti Paola, Morrison Patrick J, Brandner Sebastian, Aurrand-Lions Michel, Houlden Henry

Abstract excerpt

Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with...

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PMID: 32142645
DOI: 10.1016/j.ajhg.2020.02.007
PMCID: PMC7058839

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