Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

• Published in: American journal of human genetics Vol. 104; no. 1; pp. 164 - 178
• Main Authors: Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong-hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Orellana, Carmen, Monfort, Sandra, Roscioli, Tony, Jones, Wendy D., Sebastian, Jessica, Sonal, Desai, Sakkubai, Naidu, Faivre, Laurence, Krantz, Ian D., Adams, David R., Alejandro, Mercedes E., Azamian, Mahshid S., Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Chen, Shan, Coakley, Terra R., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Eskin, Ascia, Friedman, Noah D., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gropman, Andrea L., Hom, Jason, Jacob, Howard J., Jain, Mahim, Kohane, Isaac S., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Pena, Loren D.M., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Rosenfeld, Jill A., Sharma, Prashant, Signer, Rebecca, Sinsheimer, Janet S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Wahl, Colleen E., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Campeau, Philippe M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03.01.2019; Elsevier
• Subjects: Abnormalities, Multiple - genetics; Adolescent; Bafopathy; Child; Child, Preschool; developmental delay; Developmental Disabilities - complications; Developmental Disabilities - genetics; dysmorphisms; Face - abnormalities; Female; genotype-phenotype correlation; Hand Deformities, Congenital - genetics; Humans; intellectual disability; Intellectual Disability - complications; Intellectual Disability - genetics; Male; Micrognathism - genetics; Mutation; Neck - abnormalities; neurodevelopmental disorder; speech delay; Syndrome; Transcription Factors - genetics; transcriptome; neurodevelopmental disorder; transcriptome; genotype-phenotype correlation; Bafopathy; speech delay; developmental delay; dysmorphisms; intellectual disability
• ISSN: 0002-9297; 1537-6605; 1537-6605
• DOI: 10.1016/j.ajhg.2018.11.007

SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with int...