According to the available literature, patients with this mutation can have higher cardiovascular risks than those with mutation in BBS1 gene, since patients with mutations in BBS1 gene show low frequency of renal anomalies (potential cause of arterial hypertension) and generally present with milder phenotype while patients with mutations in BBS12 often present with obesity (associated with hyperlipidemia and glucose intolerance) (3, 5). The gene discussed is BBS12; the disease is Glucose intolerance.