{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T03:25:01Z","timestamp":1779161101277,"version":"3.51.4"},"reference-count":32,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,5,29]],"date-time":"2018-05-29T00:00:00Z","timestamp":1527552000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Tunisian Ministry of Public Health"},{"name":"The Tunisian Ministry of Higher Education and Scientific Research","award":["LR16IPT05"],"award-info":[{"award-number":["LR16IPT05"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the inner thighs and multisystemic involvement including hepatosplenomegaly, hearing loss, heart abnormalities and hypogonadism. The aim of this study was to conduct a clinical and genetic investigation in five unrelated Tunisian patients with suspected H syndrome. Hence, genetic analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>29A3<\/jats:italic> gene was performed for four patients with a clinical diagnosis of H syndrome. We identified a novel frame\u2010shift mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>29A3<\/jats:italic> gene in a female patient with a severe clinical presentation. Furthermore, we report two mutations previously described, the p.R363Q mutation in a male patient and the p.P324L mutation in two patients of different age and sex. This paper extends the mutation spectrum of H syndrome by reporting a novel frame\u2010shift mutation, the p.S15Pfs*86 in exon 2 of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>29A3<\/jats:italic> gene and emphasizes the relevance of genetic testing for its considerable implications in early diagnosis and clinical management.<\/jats:p>","DOI":"10.1111\/1346-8138.14359","type":"journal-article","created":{"date-parts":[[2018,5,29]],"date-time":"2018-05-29T07:36:46Z","timestamp":1527579406000},"page":"978-985","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["H syndrome: Clinical, histological and genetic investigation in Tunisian patients"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6806-0072","authenticated-orcid":false,"given":"Hager","family":"Jaouadi","sequence":"first","affiliation":[{"name":"Biomedical Genomics and Oncogenetics Laboratory LR16IPT05 Pasteur Institute of Tunis Tunis El Manar University Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anissa","family":"Zaouak","sequence":"additional","affiliation":[{"name":"Biomedical Genomics and Oncogenetics Laboratory LR16IPT05 Pasteur Institute of Tunis Tunis El Manar University Tunis Tunisia"},{"name":"Department of Dermatology Habib Thameur Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khadija","family":"Sellami","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hedi Chaker Hospital Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olfa","family":"Messaoud","sequence":"additional","affiliation":[{"name":"Biomedical Genomics and Oncogenetics Laboratory LR16IPT05 Pasteur Institute of Tunis Tunis El Manar University Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariem","family":"Chargui","sequence":"additional","affiliation":[{"name":"Biomedical Genomics and Oncogenetics Laboratory LR16IPT05 Pasteur Institute of Tunis Tunis El Manar University Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Hammami","sequence":"additional","affiliation":[{"name":"Department of Dermatology Habib Thameur Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meriem","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Dermatology Charles Nicolle Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raja","family":"Jouini","sequence":"additional","affiliation":[{"name":"Department of Pathology Habib Thameur Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Achraf","family":"Chadli Debbiche","sequence":"additional","affiliation":[{"name":"Department of Pathology Habib Thameur Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karima","family":"Chraiet","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mohamed Tahar Maamouri Hospital Nabeul Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sami","family":"Fenniche","sequence":"additional","affiliation":[{"name":"Department of Dermatology Habib Thameur Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ridha","family":"Mrad","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases Charles Nicolle Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mourad","family":"Mokni","sequence":"additional","affiliation":[{"name":"Department of Dermatology La Rabta Hospital Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamida","family":"Turki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hedi Chaker Hospital Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rym","family":"Benkhalifa","sequence":"additional","affiliation":[{"name":"Venoms and Therapeutic Biomolecules Laboratory LR16IPT08 Pasteur Institute of Tunis Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[{"name":"Biomedical Genomics and Oncogenetics Laboratory LR16IPT05 Pasteur Institute of Tunis Tunis El Manar University Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.03.021"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0b013e3181b28572"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.06.012"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.013"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M414337200"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1213682"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M117.787952"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp161"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000833"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.185044"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-003-1103-2"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2009.09.011"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.06.009"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-2255"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.109199"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029708"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2007.00352.x"},{"key":"e_1_2_7_20_1","first-page":"bcr0320114019","article-title":"Accelerated coronary atherosclerosis and H syndrome","volume":"2011","author":"Shankarappa RK","year":"2011","journal-title":"Case Rep"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000475908"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2009.02843.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.03.053"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2145"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rchipe.2016.03.006"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12160"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.retram.2016.01.008"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-017-0204-y"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-015-1776-5"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12973"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.07.002"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-012-0128-7"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000362167"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.14359","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14359","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T01:57:01Z","timestamp":1695002221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,29]]},"references-count":32,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1111\/1346-8138.14359"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14359","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,29]]},"assertion":[{"value":"2018-02-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-04-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}