A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family

Author:

Yuan Haiming12,Wang Qingming1,Liu Yanhui12,Yang Wei1,He Yi1,Gusella James F.3,Song Jiage4,Shen Yiping56ORCID

Affiliation:

1. Dongguan Maternal and Child Health Care Hospital; Dongguan People's Republic of China

2. Dongguan Institute of Reproductive and Genetic Research; Dongguan People's Republic of China

3. Molecular Neurogenetics Unit, Center for Genomic Medicine; Massachusetts General Hospital; Boston Massachusetts

4. Fengcheng No.1 High School; Liaoning People's Republic of China

5. Genetic and Metabolic Central Laboratory; Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Nanning People's Republic of China

6. Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology; Harvard Medical School; Boston Massachusetts

Funder

Dongguan Social development project

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference30 articles.

1. Mapping autism risk loci using genetic linkage and chromosomal rearrangements;Autism Genome Project Consortium;Nature Genetics,2007

2. Fragile X disease;Biancalana;Methods in Molecular Medicine,2004

3. Genetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviors;Born;Frontiers in Synaptic Neuroscience,2015

4. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome;Boyle;Gene,2015

5. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders;Ching;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics,2010

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