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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay by Bettina E. Mucha; Siddharth Banka; Norbert Fonya Ajeawung; Sirinart Molidperee; Gary G. Chen; Mary Kay Koenig; Rhamat B. Adejumo; Marianne Till; Michael Harbord; Renee Perrier; Emmanuelle Lemyre; Renee-Myriam Boucher; Brian G. Skotko; Jessica L. Waxler; Mary Ann Thomas; Jennelle C. Hodge; Jozef Gecz; Jillian Nicholl; Lesley McGregor; Tobias Linden; Sanjay M. Sisodiya; Damien Sanlaville; Sau W. Cheung; Carl Ernst; Philippe M. Campeau is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Purpose: Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. however, chromosomal microarray studies (cma) still yield copy-number variants (cnvs) of unknown clinical significance. we sought to characterize eight individuals with overlapping 205-kb to 504-kb 16p13.3 microdeletions that are distinct from previously published deletion syndromes. ## Methods: Clinical information on the patients and bioinformatic scores for the deleted genes were analyzed. ## Results: All individuals in our cohort displayed developmental delay, intellectual disability, and various forms of seizures. six individuals were microcephalic and two had strabismus. the deletion was absent in all 13 parents who were available for testing. the area of overlap encompasses seven genes including tbc1d24, atp6v0c, and pdpk1 (also known as pdk1). bi-allelic tbc1d24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or doors syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures). sanger sequencing of the nondeleted tbc1d24 allele did not yield any additional patho

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Author

Bettina E. Mucha; Siddharth Banka; Norbert Fonya Ajeawung; Sirinart Molidperee; Gary G. Chen; Mary Kay Koenig; Rhamat B. Adejumo; Marianne Till; Michael Harbord; Renee Perrier; Emmanuelle Lemyre; Renee-Myriam Boucher; Brian G. Skotko; Jessica L. Waxler; Mary Ann Thomas; Jennelle C. Hodge; Jozef Gecz; Jillian Nicholl; Lesley McGregor; Tobias Linden; Sanjay M. Sisodiya; Damien Sanlaville; Sau W. Cheung; Carl Ernst; Philippe M. Campeau

Publisher

Elsevier BV

Published

2018

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)