A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects

Journal of Pediatric Endocrinology and Metabolism

Volumn 27, Issue 11-12, 2014, Pages 1101-1105

  Cangul, Hakan ^a   Bas, Veysel N ^b   Saglam, Yaman ^c   Kendall, Michaela ^d   Barrett, Timothy G ^e   Maher, Eamonn R ^f   Aycan, Zehra ^b  

^a BAHCESEHIR UNIVERSITY   (Turkey)

^b Social Security Institution   (Turkey)

^c Medical Park Goztepe Hospital   (Turkey)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

autosomal recessive; congenital heart defect; consanguineous; genetics; nonsense mutation; R609X; thyroid dysgenesis; TSHR

Indexed keywords

LEVOTHYROXINE; LIOTHYRONINE; MESSENGER RNA; THYROTROPIN; THYROTROPIN RECEPTOR; THYROXINE; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR PAX8; MICROSATELLITE DNA; STOP CODON;

ARTICLE; BONE AGE; CASE REPORT; CHILD; CONGENITAL HEART MALFORMATION; CONGENITAL HYPOTHYROIDISM; ECHOCARDIOGRAPHY; EXON; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOPARATHYROIDISM; JAUNDICE; MALE; MICROSATELLITE MARKER; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PHENOTYPE; PULMONARY VALVE STENOSIS; SCHOOL CHILD; THYROID FUNCTION TEST; THYROID SCINTISCANNING; THYROTROPIN BLOOD LEVEL; COMPLICATION; FEMALE; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PROGNOSIS; STOP CODON;

BASE SEQUENCE; CODON, NONSENSE; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; PROGNOSIS; RECEPTORS, THYROTROPIN;

EID: 84908175636     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2014-0025     Document Type: Article

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