Human genetics of face recognition: discovery of MCTP2 mutations in humans with face blindness (congenital prosopagnosia).

Autor:	Sun Y; Chinese Institutes for Medical Research, Capital Medical University, Beijing 100069, China.; Chinese Institute for Brain Research, Peking-Tsinghua Center for Life Sciences, PKU-IDG/McGovern Institute for Brain Research, School of Life Sciences, Peking University, Beijing 100871, China.; Institute of Molecular Physiology, Shenzhen Bay Laboratory, Shenzhen 518107, China., Men W; Center for MRI Research, Academy for Advanced Interdisciplinary Studies, Beijing Key Lab for Medical Physics and Engineering, Institute of Heavy Ion Physics, School of Physics, Peking University, Beijing 100871, China., Kennerknecht I; Institute of Human Genetics, Westfälische Wilhelms-Universität, Münster 48149, Germany., Fang W; Chinese Institute for Brain Research, Peking-Tsinghua Center for Life Sciences, PKU-IDG/McGovern Institute for Brain Research, School of Life Sciences, Peking University, Beijing 100871, China., Zheng HF; School of Life Sciences, Westlake University, Hangzhou, Zhejiang 310024, China., Zhang W; Chinese Institutes for Medical Research, Capital Medical University, Beijing 100069, China.; Chinese Institute for Brain Research, Peking-Tsinghua Center for Life Sciences, PKU-IDG/McGovern Institute for Brain Research, School of Life Sciences, Peking University, Beijing 100871, China., Rao Y; Chinese Institutes for Medical Research, Capital Medical University, Beijing 100069, China.; Chinese Institute for Brain Research, Peking-Tsinghua Center for Life Sciences, PKU-IDG/McGovern Institute for Brain Research, School of Life Sciences, Peking University, Beijing 100871, China.; Institute of Molecular Physiology, Shenzhen Bay Laboratory, Shenzhen 518107, China.
Jazyk:	angličtina
Zdroj:	Genetics [Genetics] 2024 Jun 05; Vol. 227 (2).
DOI:	10.1093/genetics/iyae047
Abstrakt:	Face recognition is important for both visual and social cognition. While prosopagnosia or face blindness has been known for seven decades and face-specific neurons for half a century, the molecular genetic mechanism is not clear. Here we report results after 17 years of research with classic genetics and modern genomics. From a large family with 18 congenital prosopagnosia (CP) members with obvious difficulties in face recognition in daily life, we uncovered a fully cosegregating private mutation in the MCTP2 gene which encodes a calcium binding transmembrane protein expressed in the brain. After screening through cohorts of 6589, we found more CPs and their families, allowing detection of more CP associated mutations in MCTP2. Face recognition differences were detected between 14 carriers with the frameshift mutation S80fs in MCTP2 and 19 noncarrying volunteers. Six families including one with 10 members showed the S80fs-CP correlation. Functional magnetic resonance imaging found association of impaired recognition of individual faces by MCTP2 mutant CPs with reduced repetition suppression to repeated facial identities in the right fusiform face area. Our results have revealed genetic predisposition of MCTP2 mutations in CP, 76 years after the initial report of prosopagnosia and 47 years after the report of the first CP. This is the first time a gene required for a higher form of visual social cognition was found in humans. Competing Interests: Conflicts of interest. The author(s) declare no conflict of interest. (© The Author(s) 2024. Published by Oxford University Press on behalf of The Genetics Society of America. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Databáze:	MEDLINE
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