Articles related to GENETIC DISORDERS

An international guideline recommends a more structured, phenotype-driven approach to genetic testing in children with short stature, identifying clinical characteristics that increase diagnostic yield while outlining when testing is and is not warranted.

A young child with an inherited tumor-predisposition syndrome develops recurrent bilateral visual decline after completing first-line chemotherapy for a radiographically diagnosed optic pathway tumor, requiring reassessment of treatment urgency, systemic options, and surveillance.

Researchers identified regulatory variants affecting the X-linked gene MECP2 that may contribute to autism risk in males, offering a potential genetic explanation for part of the long-observed male predominance in autism spectrum disorder. Mutations associated with approximately 30% reductions in MECP2 expression produced autism-related phenotypes without causing classic Rett syndrome.

A patient with obstructive jaundice and persistent suspicion for periampullary malignancy was ultimately found to have multifocal grade 1 pancreatic neuroendocrine tumors after surgical resection. The case highlights the diagnostic limitations of preoperative tissue sampling in selected periampullary lesions.

A genome-wide analysis of more than 2.5 million adults identified 26 genetic regions associated with fibromyalgia risk. The findings support a neurologic biological basis for the condition, though they do not establish causality or create a diagnostic test.

University of Oklahoma researchers identified a photoreceptor lysosomal recycling pathway regulated by PIKfyve. Mouse-model disruption produced photoreceptor degeneration and RPE changes resembling macular degeneration biology.