ALMS1 and Alstrom syndrome: The patient carries a homozygous nonsense substitution in exon 5 of ALMS1 genotype ALMS1 c.[1046G>A]+[1046G>A] p.(Trp349*)+(Trp349*) (Marshall et al., 2005; Marshall et al., 2015); the patient’s sister was also affected by Alström syndrome, carrying the same pathogenic variants in the homozygote state, while both parents were heterozygous asymptomatic carriers.