Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 1, 2014, Pages

  Kühnen, Peter ^a   Turan, Serap ^a,b   Fröhler, Sebastian ^c   Güran, Tülay ^b   Abali, Saygin ^b   Biebermann, Heike ^a   Bereket, Abdullah ^b   Grüters, Annette ^a   Chen, Wei ^c   Krude, Heiko ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PENDRIN;

ADOLESCENT; ARTICLE; CHILD; COHORT ANALYSIS; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; ECHOGRAPHY; EXOME; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE SYNTHESIS; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SCHOOL CHILD; SLC26A4 GENE; THYROID DYSGENESIS;

ADOLESCENT; CASE-CONTROL STUDIES; COHORT STUDIES; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; THYROID DYSGENESIS; TURKEY;

EID: 84892142427     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2619     Document Type: Article

References (38)

1. Gruters A, Krude H. Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 2012;8:104-113.
2. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev. 2004;25:722-746.
3. Thorwarth A, Mueller I, Biebermann H, et al. Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. J Clin Endocrinol Metab. 2010;95:3446-3452.
4. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760.
5. DePristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491-498.
6. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308-311.
7. Cingolani P, Platts A, Coon M, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, Snp Eff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly. 2012;6:80-92.
8. Flicek P, Amode MR, Barrell D, et al. Ensembl 2012. Nucleic Acids Res. 2012;40:D84-D90.
9. Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 2010;20:110-121.
10. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
11. Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol. 2010;6: e1001025.
12. Fugazzola L, Cerutti N, Mannavola D, et al. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res. 2002;51:479-484.
13. Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ. Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet Part A. 2004;124A:1-9.
14. Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotypephenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and nonsyndromic EVA are distinct clinical and genetic entities. J Med Genet. 2005;42:159-165.
15. Blons H, Feldmann D, Duval V, et al. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet. 2004;66:333-340.
16. Choi BY, Stewart AK, Madeo AC, et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat. 2009;30:599-608.
17. Campbell C, Cucci RA, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat. 2001;17:403-411.
18. Rendtorff N, Schrijver I, Lodahl M, et al. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. Clin Genet. 2013;84(4): 388-391.
19. Liesenkotter KP, Kiebler A, Stach B, Willgerodt H, Gruters A. Small thyroid volumes and normal iodine excretion in Berlin schoolchildren indicate full normalization of iodine supply. Exp Clin Endocrinol Diabetes. 1997;4(suppl 105):46-50.
20. de Moraes VC, dos Santos NZ, Ramos PZ, Svidnicki MC, Castilho AM, Sartorato EL. Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. Int J Pediatr Otorhinolaryngol. 2013;77:410-413.
21. Pendred V. Deaf-mutism and goiter. Lancet. 1896:532.
22. Twyffels L, Massart C, Golstein PE, et al. Pendrin: the thyrocyte apical membrane iodide transporter? Cell Physiol Biochem. 2011; 28:491-496.
23. Bizhanova A, Kopp P. Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells. Cell Physiol Biochem. 2011;28:485-490.
24. Royaux IE, Suzuki K, Mori A, et al. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology. 2000;141:839-845.
25. Royaux IE, Wall SM, Karniski LP, et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA. 2001;98:4221-4226.
26. Everett LA, Morsli H, Wu DK, Green ED. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA. 1999; 96:9727-9732.
27. Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, Li SY. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res. 2005; 199:22-30.
28. Banghova K, Al Taji E, Cinek O, et al. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. Eur J Pediatr. 2008;167:777-783.
29. Pera A, Dossena S, Rodighiero S, et al. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci USA. 2008;105:18608-18613.
30. Dentice M, Luongo C, Elefante A, et al. Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells. Mol Cell Biol. 2005; 25:10171-10182.
31. Boyages SC, Halpern JP. Endemic cretinism: toward a unifying hypothesis. Thyroid. 1993;3:59-69.
32. Shankar SM, Menon PS, Karmarkar MG, Gopinath PG. Dysgenesis of thyroid is the common type of childhood hypothyroidism in environmentally iodine deficient areas of north India. Acta Paediatr. 1994;83:1047-1051.
33. Delange F. The disorders induced by iodine deficiency. Thyroid. 1994;4:107-128.
34. Stanbury JB, Delange F, Ermans A, Fierro-Benitez R. The varied manifestations of endemic cretinism. Trans Am Clin Climatol Assoc. 1974;85:6-17.
35. Chiovato L, Vitti P, Bendinelli G, et al. Humoral thyroid autoimmunity is not involved in the pathogenesis of myxedematous endemic cretinism. J Clin Endocrinol Metab. 1995;80:1509-1514.
36. Resch U, Helsel G, Tatzber F, Sinzinger H. Antioxidant status in thyroid dysfunction. Clin Chem Lab Med. 2002;40:1132-1134.
37. Senou M, Khalifa C, Thimmesch M, et al. A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid. J Clin Endocrinol Metab. 2010;95:4021-4030.
38. Dossena S, Rodighiero S, Vezzoli V, et al. Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol. 2009;43:93-103.