Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ² test), but mostly outside the functional domains (p = 0.004; χ² test). Statistical analyses did not show a correlation between the MED12-related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype–phenotype correlation in MED12-related diseases remains challenging. Therefore, we think that patients with a causative MED12 variant are currently underdiagnosed due to the broad patients' clinical presentations.     

消疕汤对豚鼠308nm准分子光照射最小红斑量的影响＊

目的 观察消疕汤对豚鼠最小红斑量(MED)的影响。方法 将80只豚鼠按序号分为消疕汤组和对照组，奇数列入消疕汤组，偶数列入对照组。消疕汤组予消疕汤灌胃，对照组予蒸馏水灌胃。分别在灌胃前、灌胃10天后、灌胃20天后和灌胃30天后对两组豚鼠背部皮肤进行308 nm准分子光照射，并记录照射24小时后的MED值。结果 灌胃前消疕汤组的MED为(800±126.5) mJ?cm^-2,对照组的MED为（780±107.7） mJ?cm^-2，差异无统计学意义（P>0.05）。经灌胃10天后、灌胃20天后、灌胃30天后，消疕汤组豚鼠的MED值明显低于对照组，差异有统计学意义(P＜0.05)。结论 消疕汤能降低豚鼠的MED值，同时增加皮损对308 nm准分子光波长的敏感度以及皮损吸收量，可能为消疕汤治疗银屑病的机制之一。