Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: The experience of the Italian Northeastern Reference Center

Genetic Testing

Volumn 11, Issue 4, 2007, Pages 387-390

  Camilot, Marta ^a   Teofoli, Francesca ^a   Vincenzi, Monica ^a   Federici, Francesca ^a   Perlini, Silvia ^a   Tatò, Luciano ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN RECEPTOR; TRANSCRIPTION FACTOR PAX8;

ARTICLE; BLOOD CHEMISTRY; CONGENITAL HYPOTHYROIDISM; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DETERMINATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; ITALY; MOLECULAR BIOLOGY; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; ONCOGENE; PAX8 GENE; REPRODUCTION; TRANSCRIPTION INITIATION; TSHR GENE;

CONGENITAL HYPOTHYROIDISM; DNA; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GENOME, HUMAN; HUMANS; INFANT, NEWBORN; ITALY; NEONATAL SCREENING; PAIRED BOX TRANSCRIPTION FACTORS; RECEPTORS, THYROTROPIN;

EID: 38149073425     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0033     Document Type: Article

References (19)

1. Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018-3024.
2. Antonarakis ES, Sampson JR, Cheadle JP (2002) Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. J Biochem Biophys Method 51:161-164.
3. Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM (2001) Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2:17-28.
4. Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL (2002) Use of Denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem 48:1913-1918.
5. Camilot, M, Teofoli F, Gandini A, Franceschi R, Rapa A, Corrias A, Bona G, Radetti G, Tato L (2005) Thyrotropin receptor gene mutations and TSH resistance: Variable expressivity in the heterozygotes. Clin Endocrinol (Oxf) 63:146-151.
6. Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P (2001) A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 86:3962-3967.
7. De Felice M, Di Lauro R (2004) Thyroid development and its disorders: Genetics and molecular mechanisms. Endocr Rev 25:722-746.
8. de Roux N, Misrahi M, Chatelain N, Gross B, Milgrom E (1991) Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Mol Cell Endocrinol 117:253-256.
9. de Roux N, Misrahi M, Brauner R, Houang M, Carel JC, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublanc JE, Milgrom E (1996) Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab 81:4229-4235.
10. Emmerson P, Maynard J, Jones S, Butler R, Sampson JR, Cheadle JP (2003) Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat 21:112-115.
11. Le Gac G, Mura C, Ferec C (2001) Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC. Clin Chem 47:1633-1640.
12. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19:83-85.
13. New England Congenital Hypothyroidism Collaborative (1990) Elementary school performance of children with congenital hypothyroidism. J Pediatr 116:27-32.
14. Orlow I, Roy P, Barz A, Canchola R, Song Y, Berwick M (2001) Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations. J Mol Diagn 3:158-163.
15. Roberts HE, Moore CA, Fernhoff PM (1997) Population study of congenital hypothyroidism and associated birth defects. Am J Med Genet 71:29-32.
16. Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S (1995) Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332:155-157.
17. Van Vliet G (2001) Treatment of congenital hypothyroidism. Lancet 358: 86-87.
18. Vassart G, Dumont JE, Refetoff S (1995) Thyroid disorders. In: Sciver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw Hill, Inc., New York, pp. 2917-2918.
19. Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P (1999) Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369-376.