{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T18:48:36Z","timestamp":1784918916365,"version":"3.55.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:00:00Z","timestamp":1657584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Crisponi\/cold\u2010induced sweating syndrome (CS\/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS\/CISS is mainly associated with\n                    <jats:italic>CRLF1<\/jats:italic>\n                    and, rarely,\n                    <jats:italic>CLCF1<\/jats:italic>\n                    . PERCHING syndrome, previously known as CS\/CISS type\u20103 associated with biallelic pathogenic variants in\n                    <jats:italic>KLHL7,<\/jats:italic>\n                    is notable for its few overlapping manifestations. This study presents genotype\u2013phenotype relationships in CS\/CISS\u2010like spectrum associated with\n                    <jats:italic>CRLF1<\/jats:italic>\n                    and\n                    <jats:italic>KLHL7<\/jats:italic>\n                    . Clinical findings of 19 patients from 14 families and four patients from three families were found in association with six different\n                    <jats:italic>CRLF1<\/jats:italic>\n                    and three different\n                    <jats:italic>KLHL7<\/jats:italic>\n                    variants, respectively. c.167T&gt;C and c.713delC of the\n                    <jats:italic>CRLF1<\/jats:italic>\n                    gene and the c.642G&gt;C of the\n                    <jats:italic>KLHL7<\/jats:italic>\n                    were novel. The c.708_709delCCinsT allele of\n                    <jats:italic>CRLF1<\/jats:italic>\n                    was identified in 10 families from the Mardin province of Turkey, underlining that an ancestral haplotype has become widespread.\n                    <jats:italic>CRLF1<\/jats:italic>\n                    \u2010associated phenotypes revealed novel manifestations such as prenatal oligohydramnios, benign external hydrocephalus, previously unreported dysmorphic features emerging with advancing age, severe palmoplantar keratoderma and facial erythema, hypopigmented macules and streaks, and recurrent cardiac arrests.\n                    <jats:italic>KLHL7<\/jats:italic>\n                    variants presented with glabellar nevus flammeus, blepharophimosis, microcephaly, thin corpus callosum, and cleft palate. Abnormalities of sweating, observed in one patient reported herein, is known to be very rare among\n                    <jats:italic>KLHL7<\/jats:italic>\n                    \u2010related phenotypes.\n                  <\/jats:p>","DOI":"10.1111\/cge.14177","type":"journal-article","created":{"date-parts":[[2022,6,14]],"date-time":"2022-06-14T09:29:21Z","timestamp":1655198961000},"page":"201-217","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and molecular genetic findings of Crisponi\/cold\u2010induced sweating syndrome (CS\/CISS) spectrum in patients from Turkey"],"prefix":"10.1111","volume":"102","author":[{"given":"Elif","family":"Yilmaz Gulec","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital  Istanbul Turkiye"},{"name":"Department of Medical Genetics Istanbul Medeniyet University Medical School, Istanbul Goztepe Prof Dr Suleyman Yalcin City Hospital  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gozde Tutku","family":"Turgut","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital  Istanbul Turkiye"},{"name":"Department of Medical Genetics Basaksehir Cam and Sakura City Hospital  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volkan","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Nihal","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Sultangazi Haseki Training and Research Hospital  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahin","family":"Avci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"},{"name":"Department of Medical Genetics Koc University Medical Faculty  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tugba","family":"Kalayci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyli","family":"Senturk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"},{"name":"Department of Medical Genetics Istanbul Bagcilar Training and Research Hospital  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akif","family":"Ayaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital  Istanbul Turkiye"},{"name":"Department of Medical Genetics Istanbul Medipol University Medical School  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"},{"name":"Department of Medical Genetics Koc University Medical Faculty  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altuno\u011flu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Istanbul Medical Faculty, Istanbul University  Istanbul Turkiye"},{"name":"Department of Medical Genetics Koc University Medical Faculty  Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,12]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91805-6"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/516843"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/513608"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/346120"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.253"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509598103"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13639"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj20030407"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/381715"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.026"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104748"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.10.003"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13532"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000325"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104229"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.4103\/jdds.jdds_48_19"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103849"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.08.009"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.015"},{"key":"e_1_2_12_22_1","unstructured":"ElpidorouM.Gene discovery and cellular modelling of rare autosomal recessive neurodevelopmental conditions.2019.http:\/\/etheses.whiterose.ac.uk\/26339\/"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3739"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328348836c"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000163"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22522"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37569"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2012.08.011"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.02.028"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32531"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.2011.01741.x"},{"key":"e_1_2_12_35_1","doi-asserted-by":"crossref","unstructured":"HakanN Tuba EminogluF AydinM et al.Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndromec ga_360 216.218 2012;","DOI":"10.1111\/j.1741-4520.2012.00360.x"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20292"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.4103\/jcn.JCN_46_18"},{"issue":"2","key":"e_1_2_12_38_1","first-page":"161","article-title":"Crisponi syndrome: a new mutation in CRLF 1 gene associated with moderate outcome","volume":"24","author":"Uzunalic N","year":"2013","journal-title":"Genet Couns"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2006.07.001"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1159\/000351880"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02189"},{"key":"e_1_2_12_42_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.245126"},{"key":"e_1_2_12_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33315"},{"key":"e_1_2_12_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjan.2020.01.007"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14177","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14177","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T14:21:01Z","timestamp":1692800461000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,12]]},"references-count":43,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1111\/cge.14177"],"URL":"https:\/\/doi.org\/10.1111\/cge.14177","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14177\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14177\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14177\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14177\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,12]]},"assertion":[{"value":"2022-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}