Genetic studies in the nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders

BACKGROUND: Orofacial clefts are the most common malformations of the head and neck with a World-wide prevalence of 1/700 births. They are commonly divided into CL(P) and CP based on anatomical, genetic and embryological findings. A Nigerian craniofacial anomalies study “NigeriaCRAN” was set up in 2006 to investigate the role of gene-environment interaction in the etiology of orofacial clefts in Nigeria. SUBJECTS AND METHODS: DNA isolated from saliva from the Nigerian probands was used for genotype association studies and direct sequencing on the cleft candidate genes: MSX1, IRF6, FOXE1, FGFR1, FGFR2, BMP4, MAFB, ABCA4, PAX7 and VAX1, and the chromosome 8q region. RESULTS: A missense mutation A34G in MSX1 was observed in nine cases and four hap map controls. No other apparent etiologic variations were identified. A deviation from HWE was observed in the cases (p= 0.00002). There was a significant difference between the affected side for unilateral CL (p=0.03) and, between bilateral clefts and clefts on either side (p=0.02). A significant gender difference was also observed for CP (p=0.008). CONCLUSIONS: The replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the etiology of CL(P)

Scratches from the Past: Inflationary Archaeology through Features in the Power Spectrum of Primordial Fluctuations

International audienceInflation may provide unique insight into the physics at the highest available energy scales that cannot be replicated in any realistic terrestrial experiment. Features in the primordial power spectrum are generically predicted in a wide class of models of inflation and its alternatives, and are observationally one of the most overlooked channels for finding evidence for non-minimal inflationary models. Constraints from observations of the cosmic microwave background cover the widest range of feature frequencies, but the most sensitive constraints will come from future large-scale structure surveys that can measure the largest number of linear and quasi-linear modes