Genome-wide association studies (GWASs) of major depressive disorder (MDD) have yet to identify variants that surpass the threshold for genome-wide significance. A recent study reported that runs of homozygosity (ROH) are associated with schizophrenia, reflecting a novel genetic risk factor resulting from increased parental relatedness and recessive genetic effects. Here, we explore the possibi...

First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while th...

In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of inves...

Genetic association studies usually apply the simple chi-square (χ2)-test for testing between a single-nucleotide polymorphism (SNP) and particular phenotype, assuming genotypes phenotypes are independent. So, conventional χ2-test does not consider increased risk of an individual carrying increasing number disease responsible allele (a genotype). But, tests should be performed with consideratio...

In 1919 Castle" 2 showed the dominant English spotting pattern of the rabbit to be closely linked with the recessive Dutch spotting pattern, and in 1924 he published evidence proving that both English and Dutch are linked with Angora. In the latter year I began experiments designed to learn whether or not there exists a corresponding linkage between dominant and recessive spotting in the house ...

We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extrem...

To study the recessive drain of college teachers is meaningful in practice. This paper, in perspective of psychological contract, analyzes the characteristics of psychological contracts of college teachers, the relationship between psychological contract breaches and recessive drain of college teachers, and the influencing factors of contract breaches, advancing relevant countermeasures for dea...