{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["26(6)"],"submitter":["Gudmundsson S"],"pubmed_abstract":["Revertant mosaicism (RM) is a naturally occurring phenomenon where the pathogenic effect of a germline mutation is corrected by a second somatic event. Development of healthy-looking skin due to RM has been observed in patients with various inherited skin disorders, but not in connexin-related disease. We aimed to clarify the underlying molecular mechanisms of suspected RM in the skin of a patient with keratitis-ichthyosis-deafness (KID) syndrome. The patient was diagnosed with KID syndrome due to characteristic skin lesions, hearing deficiency and keratitis. Investigation of GJB2 encoding connexin (Cx) 26 revealed heterozygosity for the recurrent de novo germline mutation, c.148G > A, p.Asp50Asn. At age 20, the patient developed spots of healthy-looking skin that grew in size and number w"],"journal":["Human molecular genetics"],"pagination":["1070-1077"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5409067"],"repository":["biostudies-literature"],"pubmed_title":["Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26."],"pmcid":["PMC5409067"],"pubmed_authors":["Wilbe M","Cahill N","Vahlquist A","Alexandrov LB","Virtanen M","Bondeson ML","Ekvall S","Hellstrom Pigg M","Gudmundsson S","Ameur A","Torma H"],"additional_accession":[]},"is_claimable":false,"name":"Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.","description":"Revertant mosaicism (RM) is a naturally occurring phenomenon where the pathogenic effect of a germline mutation is corrected by a second somatic event. Development of healthy-looking skin due to RM has been observed in patients with various inherited skin disorders, but not in connexin-related disease. We aimed to clarify the underlying molecular mechanisms of suspected RM in the skin of a patient with keratitis-ichthyosis-deafness (KID) syndrome. The patient was diagnosed with KID syndrome due to characteristic skin lesions, hearing deficiency and keratitis. Investigation of GJB2 encoding connexin (Cx) 26 revealed heterozygosity for the recurrent de novo germline mutation, c.148G > A, p.Asp50Asn. At age 20, the patient developed spots of healthy-looking skin that grew in size and number w","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Mar","modification":"2026-05-30T01:40:57.034Z","creation":"2025-05-18T12:55:12.761Z"},"accession":"S-EPMC5409067","cross_references":{"pubmed":["28158657"],"doi":["10.1093/hmg/ddx017"]}}