The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later

We report on a family that initially presented to a pediatric genetics clinic in the 1980s for evaluation of multiple congenital anomalies. Re-evaluation of one member thirty years later resulted in a phenotypic and molecularly confirmed diagnosis of MFDM. This family ’s clinical histories and the novelEFTUD2 variant identified, c.1297_1298delAT (p.Met433Valfs*17), add to the literature about MFDM. This case presented several genetic counseling challenges and highlights that “the patient” can be multiple family members. We discuss testing considerations for an unknown disorder complicated by the time constraint of the patient’s daughter’s pregnancy and how the diagnosis changed previously provided recurrence risks. Of note, 1) the 1980s clinic visit letters prov ided critical information about affected family members and 2) the patient’s husband’s internet search of his wife’s clinical features also yielded the MFDM diagnosis, illustrating the power of the internet in the hands of patients. Ultimately, this case emphasizes the importance of re-evaluat ion given advances in genetics and the value of a genetic diagnosis for both patient care and risk determination for family members.
Source: Journal of Genetic Counseling - Category: Genetics & Stem Cells Source Type: research