Articles related to Medical Genetics

Whole-genome sequencing of nearly one million participants identified pathogenic DMPK repeat expansions more frequently than historical estimates of myotonic dystrophy type 1 prevalence, while linking expansion status with cardiac conduction disorders and early-onset cataracts.

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.

Five years after participation in randomized trials, children with fetal alcohol spectrum disorder who received choline supplementation during early childhood demonstrated higher nonverbal IQ and working-memory performance than peers who received placebo, suggesting the intervention may influence long-term neurodevelopmental trajectories.

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.

Genetic testing identifies causative variants in approximately 65% to 70% of suspected inherited retinal disease cases and may shorten diagnostic delays. Advances in sequencing technologies and expanding testing access continue to shape retinal disease evaluation and counseling.