Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

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dc.contributor.authorBasmanav, F. Buket
dc.contributor.authorCesarato, Nicole
dc.contributor.authorKumar, Sheetal
dc.contributor.authorBorisov, Oleg
dc.contributor.authorKokordelis, Pavlos
dc.contributor.authorRalser, Damian J.
dc.contributor.authorWehner, Maria
dc.contributor.authorAxt, Daisy
dc.contributor.authorXiong, Xing
dc.contributor.authorThiele, Holger
dc.contributor.authorDolgin, Vadim
dc.contributor.authorGossmann, Yasmina
dc.contributor.authorFricker, Nadine
dc.contributor.authorDewenter, Malin Katharina
dc.contributor.authorWeller, Karsten
dc.contributor.authorSuri, Mohnish
dc.contributor.authorReichenbach, Herbert
dc.contributor.authorOji, Vinzenz
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorRamirez, Karla
dc.contributor.authorStewart, Helen
dc.contributor.authorBartels, Natalie Garcia
dc.contributor.authorWeibel, Lisa
dc.contributor.authorWagner, Nicola
dc.contributor.authorGeorge, Susannah
dc.contributor.authorKilic, Arzu
dc.contributor.authorTantcheva-Poor, Iliana
dc.contributor.authorStewart, Alison
dc.contributor.authorDikow, Nicola
dc.contributor.authorBlaumeiser, Bettina
dc.contributor.authorMedvecz, Marta
dc.contributor.authorBlume-Peytavi, Ulrike
dc.contributor.authorFarrant, Paul
dc.contributor.authorGrimalt, Ramon
dc.contributor.authorBertok, Sara
dc.contributor.authorBradley, Lisa
dc.contributor.authorEskin-Schwartz, Marina
dc.contributor.authorBirk, Ohad Samuel
dc.contributor.authorBygum, Anette
dc.contributor.authorSimon, Michel
dc.contributor.authorKrawitz, Peter
dc.contributor.authorFischer, Christine
dc.contributor.authorHamm, Henning
dc.contributor.authorFritz, Gunter
dc.contributor.authorBetz, Regina C.
dc.date.accessioned2025-01-20T21:02:49Z
dc.date.available2025-01-20T21:02:49Z
dc.date.issued2022
dc.description.abstractImportance Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far.
dc.description.abstractObjective To elucidate the genetic spectrum of UHS.
dc.description.abstractDesign, Setting, and Participants This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021.
dc.description.abstractMain Outcomes and Measures Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes.
dc.description.abstractResults The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene.
dc.description.abstractConclusions and Relevance This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.
dc.fuente.origenWOS
dc.identifier.doi10.1001/jamadermatol.2022.2319
dc.identifier.eissn2168-6084
dc.identifier.issn2168-6068
dc.identifier.urihttps://doi.org/10.1001/jamadermatol.2022.2319
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/93088
dc.identifier.wosidWOS:000848899700004
dc.issue.numero11
dc.language.isoen
dc.pagina.final1253
dc.pagina.inicio1245
dc.revistaJama dermatology
dc.rightsacceso restringido
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleAssessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
dc.typeartículo
dc.volumen158
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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