SLC26A4 variations among Graves' hyper-functioning thyroid gland.

[pendred syndrome]

Deleterious mutations of SLC 26 A 4 cause Pendred syndrome (PS ), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA ), and nonsyndromic hearing loss (NSHL ). However , the SLC 26 A 4 hyperactivity was recently associated with the emergence of autoimmune thyroid diseases (AITD ) and asthma among human and mouse model . Here , by direct sequencing , we investigate the sequences of the 20 coding exons (2 to 21 ) of SLC 26 A 4 and their flanking intron-exon junctions among patients affected with Graves ' disease (GD ) hyperthyroidism . Ten mono-allelic variants were identified , seven of which are intronic and previously unreported . Two , c .898 A >C (p .I 300 L ) and c .1061 T >C (p .F 3 54 S ), of the three exonic variants are non synonymous . The p .F 3 54 S variant is already described to be involved in PS or NSHL inheritances . The exploration by PCR-RFLP of p .I 300 L and p .F 3 54 S variants among 132 GD patients , 105 Hashimoto thyroiditis (HT ), 206 Healthy subjects and 102 families with NSHL have shown the presence of both variants . The p .F 3 54 S variation was identified both among patients (1 ~HT and 3 GD ) and healthy subjects (n =5 ). Whereas , the p .I 300 L variant was identified only in GD patients (n =3 ). Our studies provide evidence of the importance of systematic analysis of SLC 26 A 4 gene sequences on models other than deafness . This approach allows the identification of new variants and the review of the pathogenic effects of certain mono-allelic variants reported responsible for PS and NSHL development .

Diseases
Validation

Diseases presenting "mutations of slc26a4" symptom

pendred syndrome

You can validate or delete this automatically detected symptom