Screening of SLC26A4 gene in autoimmune thyroid diseases.

[pendred syndrome]

The Pendred syndrome (PS ) gene , SLC 26 A 4 , was involved in the genetic susceptibility of autoimmune thyroid disease (AITD ) in Tunisian population . Recently , functional assays have shown a differential expression of SLC 26 A 4 gene between Graves ' disease (GD ) and Hashimoto 's thyroiditis (HT ). Here , by the mean of DHPLC and HRM , we explored the 21 exons and their flanking intronic sequences of 128 patients affected with GD (n = 64 ) or HT (n = 64 ). The pathogenic effect of identified variations on splice was investigated using the web server HSF . Eighteen allelic variations were identified and ranged on missense , sens and splice variations . Nine identified variations (c .-66 C >G , c .898 A >C , c .1002 -9 A >C , c .1061 T >C , c .1544 + 9 G >T , c .1545 -5 T >G , c .1790 T >C , c .1826 T >G , c .2139 T >G ) were previously reported in hearing impairment studies . Forty -seven per cent (30 /64 ) of GD patients and 37 ,5 % (24 /64 ) of HT patients present at least one variant in the explored sequences . Moreover , the analysis of the variant distribution between HT (9 (5 'UTR ), 12 exonic and 13 intronic ) and GD (18 (5 'UTR ), 13 exonic and 5 intronic ) patients showed a significant difference (Ï‡Â² = 6 .54 , 2 df , P = 0 .03 ). Interestingly , missense changes (I 300 L , p .M 28 3 I , F 3 54 S and p .L 597 S ) affected conserved residues of pendrin . On the other hand , the HSF analyses ascertain that some variants identified in HT disease are predicted to have a pathogenic effect on splice . In conclusion , our analysis of SLC 26 A 4 sequence variations suggested a distinct genetics basis between HT and GD patients , which should be confirmed on a large cohort .

Diseases
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Diseases presenting "identified variations on splice" symptom

pendred syndrome

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