[Stevens-Johnson syndrome and Sharp syndrome. Report of a case (author's transl)]

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Overview

Overview

The somatosensory system relays sensory information from the skin, mucous membranes, limbs, and joints. Somatosensation is more familiarly known as the sense of touch. A typical somatosensory pathway includes three types of long neurons: primary, secondary, and tertiary. Primary neurons have cell bodies located near the spinal cord in groups of neurons called dorsal root ganglia. The sensory neurons of ganglia innervate designated areas of skin called dermatomes.

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.