HMBS mutations leave hydroxymethylbilane synthase in short supply, so porphyrin precursors accumulate and attacks can follow certain medications, alcohol or fasting.
Breathing can stop while a patient recovers from anesthesia. Variation in HTR3B and ABCB1 alters sleep response to morphine in obstructive sleep apnea.
A disc-shaped opacity at the back of the lens can impair vision from birth. This cataract is often autosomal dominant, with PITX3, CRYAB and CRYGD mutations reported.
Narrowed heart arteries before age 45 signal premature coronary artery atherosclerosis; blood tests, coronary angiography and genetic testing of relatives are explained.
Bleeding into the brain ventricles of premature infants clusters in families, twin research suggests; IVH diagnosis, amniotic fluid markers and genetic risk are covered.
A mutation in OTOF reported in an Omani family is one genetic cause of severe hearing loss; clinical assessment, prenatal testing and counseling are covered.
More than one gene can be involved: TK2, OPA1 and POLG2 all sit behind the multiple mtDNA deletions in this form, and testing informs recurrence risk.
Head size that keeps falling behind as a child grows is assessed with MRI or CT; SLC1A4 variants reported in Pakistani siblings show why DNA testing matters.