Abstract | PURPOSE: METHODS: RESULTS: We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings. CONCLUSION: This study supports CDC45 as a causative gene in craniosynostosis, as well as a number of other anomalies. We suggest that this association results in a condition independent of Meier-Gorlin syndrome, perhaps representing a novel condition and/or a cause of features associated with Baller-Gerold syndrome. In addition, this work confirms that the phenotypic variability observed in a subset of patients with 22q11.2DS is due to pathogenic variants on the nondeleted chromosome.
|
Authors | Marta Unolt, Molka Kammoun, Beata Nowakowska, Gail E Graham, T Blaine Crowley, Matthew S Hestand, Wolfram Demaerel, Maciej Geremek, Beverly S Emanuel, Elaine H Zackai, Joris R Vermeesch, Donna McDonald-McGinn |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 22
Issue 2
Pg. 326-335
(02 2020)
ISSN: 1530-0366 [Electronic] United States |
PMID | 31474763
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
|
Chemical References |
- CDC45 protein, human
- Cell Cycle Proteins
|
Topics |
- Alleles
- Cell Cycle Proteins
(genetics, metabolism)
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes
(genetics)
- Chromosomes, Human, Pair 22
(genetics)
- Craniosynostoses
(genetics)
- DiGeorge Syndrome
(genetics, metabolism)
- Female
- Heart Defects, Congenital
(genetics)
- Humans
- Male
- Phenotype
- Retrospective Studies
|