RESUMEN
Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ''question-mark ear syndrome'' or ''dysgnathia complex'', is a rare craniofacial malformation of first and second branchial arches with a prevalence of <1/1,000,000. It is characterized by a distinctive auricular malformation (question mark ear (QME)) and highly variable mandibular anomalies. Variants found in PLCB4, GNAI3, and in EDN1 genes are responsible for >90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families.
Asunto(s)
Enfermedades del Oído/genética , Oído/anomalías , Mutación , Fenotipo , Fosfolipasa C beta/genética , Adolescente , Adulto , Niño , Oído/patología , Enfermedades del Oído/patología , Endotelina-1/genética , Femenino , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética , Humanos , Masculino , LinajeRESUMEN
This study aimed at determining the role of genetic and environmental risk factors in the development of essential hypertension in Alexandria, Egypt. A case-control-study was conducted in the Main Health Insurance Hospital, (MHI) Alexandria, Egypt, whereby cases previously diagnosed as hypertensive were included in the study. A hospital-based control group visiting the hospital for other unrelated conditions and randomly selected in the same day as cases was also included in the study. Both cases and controls were subjected to a semi-structured questionnaire including information concerning socio-demographic data and risk factors for hypertension Only cases were subjected to segregation analysis. This study included 165 cases with history of essential hypertension, and 196 controls. Multivariate analysis of potential risk factors showed the following factors to be independently associated with an increased risk of essential hypertension: age over 40 years, elevated BMI, workers, ever smoker and stress. Education less than 6 years remained in the model as an independent protective effect. Segregation analysis proved that the disease is not inherited as single gene mode of inheritance. On the other hand, the heritability for 1st, 2nd and 3rd degree relative was 28.2%, 28.7% and 20.0%. These figures provide evidence to multifactorial mode of inheritance in essential hypertension.