FBN1 and Marfan syndrome: The family trio was analyzed through WES, which highlighted the presence of: (1) a nonsense mutation already described as causative of Marfan syndrome (MIM#: 154700, ORPHA: 558) [15] in FBN1 (NM_000138.5) (c.4930C > T, p.(Arg1644*)), at the heterozygous state both in the proband and the mother, and (2) two compound heterozygous mutations already described as causative of dRTA and HL (MIM#: 267300, ORPHA: 18) [16,17], the c.242T > C, p.(Leu81Pro) and the c.687 + 1G > A, in the ATP6V1B1 gene (NM_001692.4) in the proband (Supplementary Figure S1C,D, Table 1).