{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:38:00Z","timestamp":1770989880222,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,17]],"date-time":"2022-05-17T00:00:00Z","timestamp":1652745600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14\u2009years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. All except the one with PA presented with early onset blistering along with laryngeal involvement in the form of hoarseness of voice and nail involvement. Patient with PA presented with aplasia cutis and died in the first week. Two patients had predominantly respiratory and gastrointestinal involvement with varying severity while two had features of myasthenic syndrome but no limb\u2010girdle involvement and one patient phenocopied laryngo\u2010onycho\u2010cutaneous (LOC) syndrome. Using whole\u2010exome sequencing, we identified novel mutations in <jats:italic>PLEC<\/jats:italic>. Histopathological analysis (Immunofluorescence antigen mapping) showed absence of staining to plectin antibodies. Our observations propose to append a phenotype of EBS, hoarseness of voice and nail dystrophy or LOC\u2010like phenotype with plectin mutations. Long\u2010term follow up is necessary to monitor for the development of muscular dystrophy.<\/jats:p>","DOI":"10.1002\/ajmg.a.62781","type":"journal-article","created":{"date-parts":[[2022,5,17]],"date-time":"2022-05-17T09:04:46Z","timestamp":1652778286000},"page":"2454-2459","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical heterogeneity in epidermolysis bullosa simplex with plectin (<scp><i>PLEC<\/i><\/scp>) mutations\u2014A study of six unrelated families from India"],"prefix":"10.1002","volume":"188","author":[{"given":"Gurudatta Baraka","family":"Vishwanathan","sequence":"first","affiliation":[{"name":"Centre for Human Genetics Biotech Park  Bangalore Karnataka India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoj","family":"Srinivasa","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics Biotech Park  Bangalore Karnataka 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