{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:55:10Z","timestamp":1790780110703,"version":"4.1.0"},"reference-count":19,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:sec>\n            <jats:title>Objectives<\/jats:title>\n            <jats:p>Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (<jats:italic toggle=\"yes\">KCTD1<\/jats:italic>) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, hairless posterior scalp nodules, absent or rudimentary nipples, breast aplasia and external ear anomalies. We report a child with clinical features of an ectodermal dysplasia, including sparse hair, dysmorphic facial features, absent nipples, 2\u20133 toe syndactyly, mild atopic dermatitis and small cupped ears with overfolded helices. We also review the published cases of SENS with molecularly confirmed <jats:italic toggle=\"yes\">KCTD1<\/jats:italic> variants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and results<\/jats:title>\n            <jats:p>Using whole-exome sequencing, we identified a novel, <jats:italic toggle=\"yes\">de novo<\/jats:italic> in-frame insertion in the broad-complex, tramtrack and bric-a-brac (BTB) domain of the <jats:italic toggle=\"yes\">KCTD1<\/jats:italic> gene. By comparing to the previously reported patients, we found that our patient\u2019s clinical features and molecular variant are consistent with a diagnosis of SENS.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This is only the 13th <jats:italic toggle=\"yes\">KCTD1<\/jats:italic> variant described and the first report of an in-frame insertion causing clinical features, expanding the mutational spectrum of <jats:italic toggle=\"yes\">KCTD1<\/jats:italic> and SENS.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/mcd.0000000000000387","type":"journal-article","created":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T08:00:29Z","timestamp":1630310429000},"page":"167-172","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature"],"prefix":"10.1097","volume":"30","author":[{"given":"Kameryn M.","family":"Butler","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahid","family":"Bahrambeigi","sequence":"additional","affiliation":[{"name":"Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allie","family":"Merrihew","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Friez","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara S.","family":"Cathey","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2021,8,26]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/MCD.0b013e3280147217","article-title":"Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family.","volume":"16","author":"Al-Gazali","year":"2007","journal-title":"Clin Dysmorphol"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/jcb.22002","article-title":"The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation.","volume":"106","author":"Ding","year":"2009","journal-title":"j Cell Biochem"},{"key":"R3-20250524","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/ajmg.1320500307","article-title":"Scalp-ear-nipple syndrome: 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