Research
The groups of Dr. Campeau and Dr. Fisher focused on CHD3 several years before the landmark 2018 publication, collecting clinical and genetic information to better understand the effects of CHD3 mutations. Their collaboration — along with clinicians, bioinformaticians, and families — led to the characterization of Snijders Blok-Campeau Syndrome.
Key Researchers
Dr. Campeau
Dr. Campeau studied medicine at Laval University, specialized in medical genetics at McGill University, and completed a postdoctoral fellowship at the Baylor College of Medicine. He now practices clinical genetics at the Sainte-Justine Hospital and the Shriners Hospital for Children in Montreal. His research lab studies epigenetic diseases, epilepsy, and skeletal dysplasias. More information at pcampeaulab.org.
Simon Fisher
Simon Fisher is a director of the Max Planck Institute for Psycholinguistics and Professor of Language and Genetics at the Donders Institute for Brain, Cognition and Behaviour in Nijmegen, the Netherlands. He heads a department investigating neurogenetic pathways involved in speech, language, and reading — identifying rare gene disruptions that cause neurodevelopmental disorders and characterizing their functional impacts in model systems including brain organoids.
Published Research
Early research into speech and language disorders discovered a mutation on CHD3.
Eising, Else et al. "A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development." Molecular psychiatry vol. 24,7 (2019): 1065-1078.
View paperFirst publication describing CHD3 as a cause of a neurodevelopmental syndrome in 35 individuals.
Snijders Blok, Lot et al. "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language." Nature communications vol. 9,1 4619. 5 Nov. 2018.
View paperA second publication examining 24 additional individuals brings the total to ~60 patients and further defines the disorder. The syndrome was named between 2018 and 2020.
Drivas, T.G., Li, D., Nair, D. et al. "A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome." Eur J Hum Genet 28, 1422–1431 (2020).
View paperCase report of a 9-year-old child from Japan with severe ID, autism, joint laxity, and dysmorphisms.
Miyako Mizukami, et al. "A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms." Brain and Development, Volume 43, Issue 4, 2021, 563-565.
View paperCase study of a 14-month-old girl from China. Note: full text is in Chinese.
Fan, Xi-Yong. "Snijders Blok-Campeau syndrome caused by CHD3 gene mutation: a case report." Zhongguo dang dai er ke za zhi vol. 23,9 (2021): 965-968.
View paperDescribes a young CHD3 female with central precocious puberty.
LeBreton, L. et al. "A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?" American Journal of Medical Genetics Part A, 191A: 1065–1069.
View paperExamines 21 families with inherited CHD3 showing variable expressivity of the syndrome.
van der Spek, Jet et al. "Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome." Genetics in medicine vol. 24,6 (2022): 1283-1296.
View paperFor Clinicians
We are collecting information from physicians on additional patients at humandiseasegenes.nl/chd3.
We are also collecting DNA or blood for episignatures with Dr. Rosanna Weksberg.