dc.contributor.author | Angius, Andrea | |
dc.contributor.author | Uva, Paolo | |
dc.contributor.author | Buers, Insa | |
dc.contributor.author | Oppo, Manuela | |
dc.contributor.author | Puddu, Alessandro | |
dc.contributor.author | Onano, Stefano | |
dc.contributor.author | Persico, Ivana | |
dc.contributor.author | Loi, Angela | |
dc.contributor.author | Marcia, Loredana | |
dc.contributor.author | Hoehne, Wolfgang | |
dc.contributor.author | Cuccuru, Gianmauro | |
dc.contributor.author | Fotia, Giorgio | |
dc.contributor.author | Deiana, Manila | |
dc.contributor.author | Marongiu, Mara | |
dc.contributor.author | Atalay, Hatice Tuba | |
dc.contributor.author | Inan, Sibel | |
dc.contributor.author | El Assy, Osama | |
dc.contributor.author | Smit, Leo M. E. | |
dc.contributor.author | Okur, Ilyas | |
dc.contributor.author | Boduroglu, Koray | |
dc.contributor.author | Utine, Gulen Eda | |
dc.contributor.author | Kilic, Esra | |
dc.contributor.author | Zampino, Giuseppe | |
dc.contributor.author | Crisponi, Giangiorgio | |
dc.contributor.author | Crisponi, Laura | |
dc.contributor.author | Rutsch, Frank | |
dc.date.accessioned | 2019-12-12T06:49:30Z | |
dc.date.available | 2019-12-12T06:49:30Z | |
dc.date.issued | 2016 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2016.05.026 | |
dc.identifier.uri | http://hdl.handle.net/11655/17137 | |
dc.description.abstract | Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical features: hyperthermia and feeding difficulties in the neonatal period, scoliosis, and paradoxical sweating induced by cold since early childhood. CS/CISS1 can be caused by mutations in cytokine receptor-like factor 1 (CRLF1). However, the physiopathological role of CRLF1 is still poorly understood. A subset of CS/CISS1 cases remain yet genetically unexplained after CRLF1 sequencing. In five of them, exome sequencing and targeted Sanger sequencing identified four homozygous disease-causing mutations in kelch-like family member 7 (KLHL7), affecting the Kelch domains of the protein. KLHL7 encodes a BTB-Kelch-related protein involved in the ubiquitination of target proteins for proteasome-mediated degradation. Mono-allelic substitutions in other domains of KLHL7 have been reported in three families affected by a late-onset form of autosomal-dominant retinitis pigmentosa. Retinitis pigmentosa was also present in two surviving children reported here carrying bi-allelic KLHL7 mutations. KLHL7 mutations are thus associated with a more severe phenotype in recessive than in dominant cases. Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7. | |
dc.language.iso | en | |
dc.publisher | Cell Press | |
dc.relation.isversionof | 10.1016/j.ajhg.2016.05.026 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Genetics & Heredity | |
dc.title | Bi-Allelic Mutations In Klhl7 Cause A Crisponi/Ciss1-Like Phenotype Associated With Early-Onset Retinitis Pigmentosa | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | American Journal Of Human Genetics | |
dc.contributor.department | Göz Hastalıkları | |
dc.identifier.volume | 99 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 236 | |
dc.identifier.endpage | 245 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |