TMPRSS3 and hearing loss, autosomal recessive: In addition to the pathogenic variant in CBS, the exome sequencing revealed a homozygous pathogenic variant in TMPRSS3 NM_001256317.1:c.[413C>A]:[413C>A] (p.(Ala138Glu)), which is located at exon 5, that has been associated with nonsyndromic autosomal recessive deafness (OMIM 605511), as well as a homozygous likely pathogenic variant in PRG4 NM_005807.6:c.[3756dup]:[3756dup] (p.(Lys1253Ter)), which is located at exon 10, related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) Syndrome (OMIM 208250; Figure 4b  -d).