Genetic test results of the patient’s brother revealed the same variants in SDHA and RECQL4, and an additional VUS predicted to affect protein sequence: c.1098A>T (p. Glu366Asp) in MEN1 (OMIM: 131100), encoding the menin tumor suppressor associated with multiple endocrine neoplasia. The gene discussed is RECQL4; the disease is multiple endocrine neoplasia.