A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family

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dc.contributor.authorCangül, Hakan
dc.contributor.authorAydın, Banu
dc.contributor.authorBaş, Firdevs
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T20:01:26Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T20:01:26Z
dc.date.issued2015
dc.departmentİstanbul Medipol Üniversitesi, Uluslararası Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.descriptionWOS: 000218770800002
dc.descriptionPubMed ID: 27617131
dc.description.abstractCongenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous Turkish family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus, using microsatellite markers, and then screened for mutations in linked-gene by conventional sequencing. The family showed potential linkage to the TPO gene and we detected a homozygous duplication (c. 1184_1187dup4) in all cases. The mutation segregated with disease status in the family. This study confirms the pathogenicity of the c. 1184_1187dup4 mutation in the TPO gene and helps establish a genotype/phenotype correlation associated with this mutation. It also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH.
dc.identifier.citationCangül, H., Aydın, B. ve Baş, F. (2015). A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family. Journal of Pediatric Genetics, 4(4), 194-198. https://dx.doi.org/10.1055/s-0035-1565268
dc.identifier.doi10.1055/s-0035-1565268
dc.identifier.endpage198
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue4
dc.identifier.startpage194
dc.identifier.urihttps://dx.doi.org/10.1055/s-0035-1565268
dc.identifier.urihttps://hdl.handle.net/20.500.12511/3272
dc.identifier.volume4
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGeorg Thieme Verlag
dc.relation.ispartofJournal of Pediatric Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTPO
dc.subjectMutation
dc.subjectGenetics
dc.subjectDuplication
dc.subjectCongenital Hypothyroidism
dc.subjectThyroid Dyshormonogenesis
dc.titleA homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family
dc.typeArticle

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