{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,13]],"date-time":"2024-07-13T17:16:16Z","timestamp":1720890976871},"reference-count":66,"publisher":"Walter de Gruyter GmbH","issue":"1-2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH). Important genetic factors possibly contributing to TD etiologies include mutations of thyroid transcription factors and TSHR-encoding genes.<\/jats:p><jats:p>Our objective was to determine multiplex ligation-dependent probe amplification (MLPA) utility in detecting the copy number changes in patients with CH and TD.<\/jats:p><jats:p>: The study included 45 children from southeastern Poland selected via already established neonatal screening for CH. Genomic DNA was extracted from peripheral blood samples and used in MLPA analysis. Genetic variations were analyzed within selected fragments of the<\/jats:p><jats:p>Three heterozygous deletion types in probe hybridization regions were identified for the following genes:<\/jats:p><jats:p>MLPA is a useful tool for copy number changes detection and might both improve and expand genetic analysis for CH and TD.<\/jats:p>","DOI":"10.1515\/jpem-2014-0040","type":"journal-article","created":{"date-parts":[[2014,8,20]],"date-time":"2014-08-20T17:02:52Z","timestamp":1408554172000},"source":"Crossref","is-referenced-by-count":2,"title":["Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification"],"prefix":"10.1515","volume":"28","author":[{"given":"Malgorzata","family":"Kumorowicz-Czoch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Madetko-Talowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Tylek-Lemanska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek J.","family":"Pietrzyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Starzyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref201","first-page":"109","article-title":"Krude von Moers hypothyroidism and pulmonary alterations due to human haploinsufficiency","volume":"2","author":"Schutz","year":"2002","journal-title":"J Clin Invest"},{"key":"ref581","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jmg.2004.024158","article-title":"of congenital hypothyroidism","author":"Park","year":"2005","journal-title":"Genetics J Med Genet"},{"key":"ref131","first-page":"87","article-title":"developmental anomalies in first degree relatives of children with congenital hypothyroidism","author":"Leger","year":"2002","journal-title":"Thyroid J Clin Endocrinol Metab"},{"key":"ref801","first-page":"77","article-title":"Multiplex ligation - dependent probe amplification improves the detection rate of mutations in patients affected by brain - lung - thyroid syndrome","volume":"2","author":"Teissier","year":"2012","journal-title":"Horm Res Paediatr"},{"key":"ref311","first-page":"322","article-title":"phenomics of hypothyroidism due to TSH resistance","author":"Persani","year":"2010","journal-title":"Genetics Mol Cell Endocrinol"},{"key":"ref591","first-page":"5","article-title":"SH Congenital hypothyroidism","author":"Rastogi","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"ref331","first-page":"1","article-title":"analysis in syndrome patients revealed one total deletion and two partial deletions not previously reported","volume":"30","author":"Fagali","year":"2009","journal-title":"Eur J Med Genet"},{"key":"ref101","first-page":"343","article-title":"Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism","author":"Castanet","year":"2000","journal-title":"Engl J Med"},{"key":"ref531","first-page":"343","article-title":"Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism","author":"Castanet","year":"2000","journal-title":"Engl J Med"},{"key":"ref851","first-page":"53","article-title":"testing in clinical pediatric practice","author":"Yoo","year":"2010","journal-title":"Genetic J Pediatr"},{"key":"ref111","article-title":"Nineteen years of national screening for congenital hypothyroidism : familial cases with thyroid dysgenesis suggest the involvement of genetic factors","volume":"14","author":"Castanet","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"ref231","first-page":"977","article-title":"Hermanns Mutation in the gene and the promoter in a girl with thyroid dysgenesis","author":"Grasberg","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"ref841","first-page":"73","article-title":"Spectrum of Human Mutations","author":"Castanet","year":"2010","journal-title":"Horm Res Paediatr"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1210\/jc.2008-1767","article-title":"mutations as a cause of congenital hypothyroidism in Japan : a population - based genetic epidemiology study","volume":"23","author":"Narumi","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref91","first-page":"329","article-title":"Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound","author":"Karakoc","year":"2008","journal-title":"Horm Res"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/humu.20122","article-title":"Large deletions of the APC gene in of mutation - negative patients with classical polyposis a Belgian study","volume":"15","author":"Michils","year":"2005","journal-title":"Hum Mutat"},{"key":"ref771","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/gcc.20138","article-title":"Screening for large mutations of the gene","author":"Kluwe","year":"2005","journal-title":"Genes Chromosomes Cancer"},{"key":"ref631","first-page":"109","article-title":"Krude von Moers hypothyroidism and pulmonary alterations due to human haploinsufficiency","volume":"2","author":"Schutz","year":"2002","journal-title":"J Clin Invest"},{"key":"ref661","first-page":"977","article-title":"Hermanns Mutation in the gene and the promoter in a girl with thyroid dysgenesis","author":"Grasberg","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"ref731","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1210\/jc.2008-1767","article-title":"mutations as a cause of congenital hypothyroidism in Japan : a population - 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of function mutation in TTF is associated with congenital hypothyroidism thyroid agenesis and cleft palate","volume":"11","author":"Castanet","year":"2002","journal-title":"Hum Mol Genet"},{"key":"ref521","first-page":"329","article-title":"Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound","author":"Karakoc","year":"2008","journal-title":"Horm Res"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1159\/000346411","article-title":"q microduplication with hemiagenesis","volume":"22","author":"Kim","year":"2013","journal-title":"thyroid Horm Res Paediatr"},{"key":"ref431","first-page":"48","article-title":"Neonatal screening for congenital hypothyroidism results perspectives","author":"Delange","year":"1997","journal-title":"Horm Res"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/S0022-3468(84)80103-7","article-title":"duct lesions in childhood","volume":"19","author":"Solomon","year":"1984","journal-title":"J Pediatr Surg"},{"key":"ref751","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2006.046425","article-title":"deletions of are a frequent cause of hereditary spastic paraplegia","author":"Depienne","year":"2007","journal-title":"J Med Genet"},{"key":"ref61","first-page":"162","article-title":"Increased risk of thyroid pathology in patients with thyroid hemiagenesis : results of a large cohort case - 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