MedGen

Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by Mignot et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. Some patients may also show spasticity (summary by Mallaret et al., 2014). [from OMIM]

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal Cancer See a variant in the ADH1B gene (103720.0001) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene (100650.0001) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes. See the S100A14 gene (607986) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal Cancer Somatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (191170), CDKN2A (600160), DEC1 (604767), DCC (120470), DLEC1 (604050), TGFBR2 (190182), LZTS1 (606551), RNF6 (604242), WWOX (605131), APC (611731), and RUNX3 (600210). [from OMIM]