Behavior, language and movement can decline together when a C9orf72, SOD1, TARDBP or FUS mutation is shared by both ALS and frontotemporal dementia.
Compound heterozygous LBR gene mutations were found in a boy whose bone dysplasia regressed on its own; testing clarifies unclear X-ray and clinical findings.
Missing iris tissue, unsteady movement and cognitive impairment are described side by side, with reported mutations in GRM1, KCND3 and VWA3B.
A change in the ANO5 gene affects anoctamin-5 in muscle cells and can lead to distal myopathy, limb-girdle muscular dystrophy or gnathodiaphyseal dysplasia.
The TGFB2 gene encodes transforming growth factor-beta 2, and mutations in it can weaken the aortic wall, raising the risk of aneurysm and dissection in families.
Numerous polyps in the colon and rectum raise colorectal cancer risk, and APC or MUTYH testing after colonoscopy separates FAP from AFAP and MUTYH-associated polyposis.
Some families with inherited colorectal cancer carry no APC mutation; a copy number region at 3q26 affecting PPM1L and a 19q13 disruption are among the findings.
Muscle mass in the arms and legs, scaled to height, is measured by DXA, bioelectrical impedance or MRI and used to flag risks such as sarcopenic obesity.