Benign tumors of testosterone-producing Leydig cells can trigger early sexual development in boys; somatic LHR and LHCGR mutations have been found in testicular tissue.
Inherited predisposition to lung cancer is examined through susceptibility loci, BRCA2, CHEK2 and ATM germline mutations, HOTAIR variants, and blood or saliva testing.
Extra rows of eyelashes alongside limb swelling mark LDS; a novel FOXC2 frameshift mutation reported with renal disease and diabetes mellitus is described.
Abnormally large platelets with a low platelet count can bring bleeding, bruising, kidney failure and hearing loss; MYH9 testing and marrow examination are described.
Newly identified AMD genes, variants in miRNAs and miRNA-binding sites, and gene-diet findings all bear on how genetic testing might assess risk.
Sickle cell trait and G6PD deficiency protect against malaria, while copy-number gains and point mutations let P. falciparum resist some antimalarial drugs.
Discover Malattia Leventinese, a rare genetic eye disorder, and learn how genetic testing plays a vital role in diagnosis, family planning, and future treatments.
Congenital defects such as tetralogy of Fallot, coarctation and ventricular septal defect are found with imaging, and genetic testing can confirm a cause.