ALMS1 and sensorineural hearing loss disorder: Interestingly, in this study sequencing of genomic DNA in two patients of family 2 revealed a compound heterozygote with two novel pathogenic variants in the ALMS1 gene, a new frameshift mutation NM_015120.4:c.10379del (NP_055935.4:p.(Asn3460IlefsTer49)) in exon 8 and a new nonsense mutation in NM_015120.4:c.10819C > T (NP_055935.4:p.(Arg3607Trp)) in exon 17, the clinical manifestation of the two patients did not have sensorineural deafness.