Heritable aortic disease (HAD) is characterized by thoracic aortic aneurysm/dissection with strong genetic predisposition and high clinical phenotypic heterogeneity. HAD is one of the main causes of sudden death. Early diagnosis of this disease is difficult because of atypical clinical symptoms, leading to the deterioration of disease with the development of aortic aneurysm, aortic dissection or sudden death. Genetic testing plays an important role in the early diagnosis, standardized follow-up, screening of family members, genetic counseling and individualized treatment of HAD. This review focused on the application of genetic testing in the standardized diagnosis and treatment of HAD.
Genetic epilepsy with febrile seizures plus (GEFS+) is a new type of genetic epilepsy syndrome with a marked hereditary tendency. Febrile seizure is the most common clinical symptom, followed by febrile seizure plus, and with/without absence seizures, focal seizures, and generalized tonic-clonic seizures. Results of the polymerase chain reaction (PCR), exon sequencing and single nucleotide polymorphism (SNP) analysis showed that the occurrence of GEFS+ is mainly related to the mutation of gamma aminobutyric acid type A receptor gamma 2 subunit (GABRG2), but its pathogenesis was still unclear. The main types of GABRG2 mutations include missense mutation, nonsense mutation, frameshift mutation, point mutation and splice site mutation. All these types of mutations can reduce the function of ion channels on cell membrane, but the degree and mechanism of dysfunction are different, which may be the main mechanism of epilepsy. This article will focus on the relationship between GEFS+ and the mutation types of GABRG2 in recent years, which is of great significance for clinical accurate diagnosis, anti-epileptic treatment strategy and new drug development.