Split hand/foot malformation due to chromosome 7q aberrations(SHFM1):additional support for functional haploinsufficiency as the causative mechanism

We report on three patients with split hand/foot malformation type 1 (SHFM1). We detected a deletion in two patients and an inversion in the third, all involving chromosome 7q21q22. We performed conventional chromosomal analysis, array comparative genomic hybridization and fluorescence in situ hybridization. Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes. These observations confirm that haploinsufficiency due to either a simultaneous deletion of these genes or combined downregulation of gene expression due to a disruption in the region between these genes and a control element could be the cause of the syndrome. We review previously reported studies that support this hypothetical mechanism

Race/Ethnic Disparities in Early Childhood BMI, Obesity and Overweight in the UK and US

OBJECTIVE: Racial/ethnic patterning in the risk of obesity and overweight has been observed in early childhood; however, little research has compared these disparities between the United Kingdom (UK) and United States (US) using detailed ethnic classifications. We use comparable nationally representative cohort studies to examine racial/ethnic disparities in mean body mass index (BMI) and in the odds of obesity/overweight in the UK and US. The contribution of sociodemographic, cultural and family routine factors are assessed. METHODS: Data on BMI, obesity and overweight in 5-year-old children from the MCS (Millennium Cohort Study) and ECLS-B (Early Childhood Longitudinal Study, Birth Cohort) were examined. We investigated race/ethnic disparities in mean BMI and in the odds of obesity and overweight, as compared to normal weight. We assessed the independent contribution of sociodemographic, cultural and family routine factors to observed disparities. RESULTS: In the UK, after adjustment for sociodemographic, cultural and family routine factors and maternal BMI, we found Black Caribbean children to have higher odds ratio (OR=1.7, confidence interval (CI)=1.1–2.6), Pakistani children to have lower odds of obesity (OR=0.60, CI=0.37–0.96) and Black African children were more likely to be overweight (OR=1.40, CI=1.04–1.88). In the US, in fully adjusted models, there were no race/ethnic disparities in children's odds of obesity and overweight. CONCLUSION: Disparities for Bangladeshi children in the UK and Mexican, other Hispanic and American Indian children in the US can be explained by socioeconomic disadvantage, whereas a range of cultural and family characteristics partially explain disparities for other groups in the UK. Future public health initiatives focused on reducing risk of overweight and obesity should consider the diverse socioeconomic and cultural profiles of all race/ethnic groups