Tag Archives: Genetics

Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of… Read More »

Genetics Home Reference: familial hypercholesterolemia

Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called (LDLs), which are the primary carriers of cholesterol… Read More »

Perturbed Genes Regulating White Blood Cells Linked to Autism Genetics and Severity

Researchers at University of California San Diego School of Medicine say they are getting closer to identifying the mechanisms of autism spectrum disorder (ASD) and biomarkers that can aid in early diagnosis and predictions of symptom severity. A team of scientists analyzed blood gene expression data from 302 one- to four-year-old boys with and without… Read More »

Genetics Home Reference: autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision… Read More »