Molecular Genetic Etiology of Craniosynostosis among Ghanaians (MoGECaG) - Craniosynostosis is the second most common craniofacial birth defect after orofacial clefts (OFCs)
affecting 1 in 2000 to 2,500 live births. The condition has a multifactorial etiology, with both genetic
and environmental risk factors playing crucial roles. Approximately 90% of craniosynostosis cases
are non-familial and about 15% of cases are syndromic, presenting with other extra-cranial
anomalies in about 180 syndromes. The defect emanates from premature fusion of one or more
cranial sutures culminating in abnormal skull growth and increased intracranial pressure. Just like
other craniofacial birth defects, craniosynostosis has life-long psychosocial, esthetic, clinical and
financial burden on affected individuals and families. As is common with many genetic studies,
sub-Saharan African is conspicuously missing in genetic etiologic studies aimed at elucidating the
pathophysiology of craniosynostosis. This notwithstanding, the vast genetic diversity of the sub-
Saharan African genome, coupled with its shorter haplotype block offer a great potential for
etiologic variant and/or gene discovery for craniosynostosis. To the best of our knowledge, we are
proposing the first ever genetic research project on craniosynostosis among sub-Saharan Africans.
The specific aims of this collaborative research project are threefold: (a) to build research capacity
in craniosynostosis in Ghana, with a long term goal to extend to other African countries, (b) to carry
out differential gene expression between nonsyndromic craniosynostosis cases and controls, and
(c) to carry out whole exome sequencing of syndromic and nonsyndromic craniosynostosis cases.
Specific aim 1 will hone the knowledge and skill of the Ghanaian team in craniosynostosis
research whereas specific aims 2 and 3, inter alia, will build research infrastructure in Ghana.
These are necessary for the Ghanaian team to transition into independent investigators in
craniosynostosis research in the future. These specific aims will be achieved through the
collaborative efforts of three Principal Investigators: Drs. Lord Jephthah Joojo Gowans and
Solomon Obiri-Yeboah of Kwame Nkrumah University of Science and Technology, Ghana, and
Michael L. Cunningham of Seattle Children’s Craniofacial Center and the University of
Washington, USA. Dr. Peter Donkor, an Oral and Maxillofacial Surgeon, educator and researcher,
will serves as the consultant on the project. The proposed project has the potential of revealing
population-specific genetic variants and/or genes that may predispose individuals to
craniosynostosis. The project also has translational potential as it will identify high risk families – a
necessity for genetic counselling. This is particularly important in a Lower and Middle Income
Country like Ghana, where genetic tests and newborn screening is almost non-existent.
