Prenatal Diagnosis of a Homozygous SURF1 Frameshift Variant in a Female with Recurrent Adverse Neurodevelopmental Outcomes: A Case Report

Gene mutations in the SURF1 gene are linked to mitochondrial disorders that can cause severe neurodegenerative diseases in early childhood. Rarely, mutations in this gene are also associated with Charcot-Marie-Tooth disease type 4K (CMT4K), a hereditary neuropathy that leads to progressive motor decline. Here, a case of prenatal genetic testing in a high-risk multigravida patient with a history of hereditary neurometabolic disorders is discussed. At 13 weeks of gestation, Chorionic Villus Sampling (CVS) revealed a likely pathogenic homozygous frameshift mutation in the SURF1 gene (c.809_810dup; p.His271SerfsTer7). Cytogenetic analysis showed no chromosomal abnormalities. Considering the severe implications of SURF1 deficiency and the couple’s reproductive history, the pregnancy was terminated at 19 weeks after thorough genetic counselling. This case underscores the importance of early prenatal molecular diagnosis and genetic counselling for families with a known risk of inherited neurometabolic disorders.