{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:54Z","timestamp":1791536274156,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T00:00:00Z","timestamp":1501632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The gene\n                      <jats:italic>DST<\/jats:italic>\n                      encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue\u2010enriched isoforms in brain, muscle, and skin. The few patients described so far with bi\u2010allelic mutations in the\n                      <jats:italic>DST<\/jats:italic>\n                      gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. Here, we report a 17\u2010year\u2010old female individual presenting with a more complex phenotype consisting of both skin and neuronal involvement, in addition to several previously unreported findings, such as iris heterochromia, cataract, hearing impairment, syringomyelia, behavioral, and gastrointestinal issues, osteoporosis, and growth hormone deficiency. Family\u2010trio whole exome sequencing revealed that she was a compound heterozygous for two variants in the\n                      <jats:italic>DST<\/jats:italic>\n                      gene with highly\u2010predicted functional impact, c.3886A&gt;G (p.R1296X) in exon 29 and c.806C&gt;T (p.H269R) in exon 7. Interestingly, exon 7 is included in the neuronal isoform whereas exon 29 is expressed in both skin and neuronal isoforms. The patient we described is the first case with a mutation affecting an exon expressed in both the neuronal and skin isoforms that can explain the more complex phenotype compared to previously reported cases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38367","type":"journal-article","created":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T08:56:52Z","timestamp":1501664212000},"page":"2743-2746","source":"Crossref","is-referenced-by-count":31,"title":["Expanding the phenotype of\n                    <i>DST<\/i>\n                    \u2010related disorder: A case report suggesting a genotype\/phenotype correlation"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy"},{"name":"Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Alagia","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Auricchio","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Staiano","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy"},{"name":"Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23524"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt663"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.07123.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2006.04.068"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.19"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12877"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.379"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.382"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-005-0073-4"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E11-06-0573"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13294"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"}],"updated-by":[{"DOI":"10.1002\/ajmg.a.61386","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T00:00:00Z","timestamp":1571616000000}}],"container-title":["American 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