De novo ALX4 variant detected in child with non-syndromic craniosynostosis

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Access and Intensity of Mechanization: Empirical Evidence of Rice Farmers in Southern Ghana

ABSTRACT The medium term development plan of Ghana proposed modernization of agriculture to lead the way in transforming the economy. Providing irrigation infrastructure and enhancing farmer access to farm machinery were major interventions proposed. In line with this, the government has been investing in irrigation infrastructure as well as importing farm machinery under various programmes in recent years. This study analyzed access and intensity of mechanization by rice farmers in southern Ghana. The Shai-Osudoku and Ketu North Districts were purposively selected and a total of 360 farmers were randomly sampled from 16 rice growing communities. In general, the results of the descriptive statistics revealed that about 74 % of farmers were still cultivating rice with considerably low level of mechanization. The double hurdle model was employed to estimate the determinants of access to mechanization and the intensity of mechanization. The empirical results of tier one of the double huddle model revealed that size of land, access to credit, availability of farm machinery, expenditure on labour, agrochemical expenditure, the square of age, and gender positively influenced access to mechanization. Seed expenditure, age and district locations negatively influenced access to mechanization. The empirical results of the tier two of the double hurdle model revealed that distance from farm to nearest mechanization centre, rice income, non-farm income and experience were significant variables that positively influenced intensity of mechanization. Land ownership and household size negatively influenced intensity of mechanization. These results have implications for capacity building and government support for rice farmers in southern Ghana.