{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:09:17Z","timestamp":1790694557565,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,13]],"date-time":"2019-03-13T00:00:00Z","timestamp":1552435200000},"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":[[2019,6]]},"abstract":"<jats:p>Andermann syndrome (AS) is caused by mutation of <jats:italic>SLC12A6<\/jats:italic> gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. AS occurs occasionally among population outside the northeastern Quebec\u2014Saguenay\u2010Lac\u2010 St\u2010Jean and Charlevoix regions, inhabited by French Canadians. None of the described patients were of Roma ethnic origin. We present an 8\u2010month\u2010old infant of Roma ethnic origin with AS, caused by a novel frame shift mutation c.2604delT,p.(Asp868GlufsTer11) in exon 20 of <jats:italic>SLC12A6<\/jats:italic> gene. Our case presented with several atypical findings: clinical presentation resembling \u201cspinal muscular atrophy plus\u201d syndrome; tongue fasciculations, which are not reported in the literature; early contractures of the wrists; normal motor action potentials and preserved sensory action potentials. Our patient is the first of Roma origin from nonconsanguineous parents, which suggests that this mutation might be widespread in the Roma population, although screening for this mutation in 140 alleles from Roma individuals originating from the same geographic region did not reveal further carriers, implying the mutation is rare. We recommend that Roma patients presenting with the clinical phenotype of AS should be tested for this mutation primarily.<\/jats:p>","DOI":"10.1002\/ajmg.a.61110","type":"journal-article","created":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T06:59:18Z","timestamp":1552546758000},"page":"1020-1024","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of <i>SLC12A6<\/i> gene"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0461-9065","authenticated-orcid":false,"given":"Iliyana","family":"Pacheva","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Medical Genetics Medical University  Plovdiv Bulgaria"},{"name":"Department of Pediatrics University Hospital, St. George  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tihomir","family":"Todorov","sequence":"additional","affiliation":[{"name":"Genetic Medico\u2010Diagnostic Laboratory \u201cGenica\u201d  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeyra","family":"Halil","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics Medical University  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralitsa","family":"Yordanova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics Medical University  Plovdiv Bulgaria"},{"name":"Department of Pediatrics University Hospital, St. George  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Todorova","sequence":"additional","affiliation":[{"name":"Genetic Medico\u2010Diagnostic Laboratory \u201cGenica\u201d  Sofia Bulgaria"},{"name":"Department of Medical Chemistry and Biochemistry Medical University  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ina","family":"Geneva","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics Medical University  Plovdiv Bulgaria"},{"name":"Department of Pediatrics University Hospital, St. George  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fani","family":"Galabova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital, St. George  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics Medical University  Plovdiv Bulgaria"},{"name":"Department of Pediatrics University Hospital, St. George  Plovdiv Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-317319"},{"key":"e_1_2_8_3_1","volume-title":"Neuromuscular disorders","author":"Amato A.","year":"2008"},{"key":"e_1_2_8_4_1","first-page":"100","volume-title":"Handbook of clinical neurology","author":"Andermann E.","year":"1981"},{"key":"e_1_2_8_5_1","first-page":"269","article-title":"Three familial midline malformtion syndromes of the central nervous system: Agenesis of the corpus callosum and anterior horn\u2010cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis","volume":"11","author":"Andermann E.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_8_6_1","first-page":"242","article-title":"Familial agenesis of the corpus callosum with anterior horn cell disease. 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