MTHFR
Makes an enzyme that helps produce a form of folate used in the processing of homocysteine. Common variants are different from rare variants that cause severe MTHFR deficiency.
WHAT YOU’LL LEARN
Genomic imprinting describes how some genes are regulated differently depending on which parent contributed them. Beckwith-Wiedemann syndrome is one example involving growth-related imprinting.
Dr. Purser’s genetics teaching distinguishes DNA sequence variation from epigenetic regulation. This condition involves a specific growth-control region and is different from common MTHFR variants or a general methylation supplement discussion.
Ask a clinical genetics team about the exact diagnosis, developmental needs, and recommended surveillance. A consumer gene panel does not establish an imprinting disorder.