Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHβ-subunit gene

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 1, 2002, Pages 336-339

  Pohlenz, Joachim ^a   Dumitrescu, Alexandra ^b   Aumann, Ulrich ^c   Koch, Gerhard ^a   Melchior, Ralph ^d   Prawitt, Dirk ^a   Refetoff, Samuel ^a,d  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b Städtisches Krankenhaus Hagen   (Germany)

^c Departments of Medicine and Pediatrics   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; INFANT; INTRON; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL;

CONGENITAL HYPOTHYROIDISM; CONSANGUINITY; EXONS; FEMALE; HUMANS; INFANT; MUTATION; RNA SPLICE SITES; RNA, MESSENGER; THYROTROPIN;

RAPHIA FRATER;

EID: 0036146380     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.87.1.336     Document Type: Article

References (15)

1. Detection of congenital hypopituitary hypothyroidism: Ten-year experience in the Northwest Regional Screening Program
2. Severe congenital hypothyroidism due to a homozygous mutation of the βTSH gene
3. Isolation and characterization of the human thyrotropin β-subunit gene. Differences in gene structure and promoter function from murine species
4. Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency
5. A circulating, bilogically inactive thyrotropin caused by a mutation in the β subunit gene
6. Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin β-subunit gene follows an autosomal recessive inheritance
7. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-β subunit gene
8. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone β-subunit gene
9. Congenital hypothyroidism (CH) caused by a new genetic defect of the thyrotropin (TSH) beta subunit gene associated with different hormonal derangement in the same sibship
10. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene
11. A 5′ splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix
12. A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency
13. Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G→A splice site mutation in the low-density lipoprotein receptor gene
14. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV
15. Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin