Examinamos as características da síndrome de Pendred em 41 indivíduos pertencentes a uma família nordestina com elevado grau de endogamia. A nova . 19 Oct Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss. 6 Mar Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes creates.

Author: Kara Bakasa
Country: France
Language: English (Spanish)
Genre: Photos
Published (Last): 10 January 2013
Pages: 329
PDF File Size: 6.60 Mb
ePub File Size: 7.12 Mb
ISBN: 750-9-75601-552-4
Downloads: 29613
Price: Free* [*Free Regsitration Required]
Uploader: Malagami

Genetic and linkage analysis of familial congenital hypothyroidism: No specific treatment exists for Pendred syndrome. Management includes annual audiograms with suitable amplification hearing aids as soon as hearing impairment is diagnosed. Since then, at least eight families harboring this mutation have been identified Familial goiter due to an organification defect in euthyroid siblings.

Transient expression of green fluorescent protein-tagged pendrin mutant constructs in mammalian cell lines demonstrated appropriate trafficking to the plasma membrane for only 2 mutants. Nature Genet ; Phillips, III – updated: The index patient showed the classic triad of deafness, positive perchlorate test, and goiter.

Two pendted missense mutations in Pendred syndrome. A single nucleotide T deletion at position of exon 10 delT was detected in homozygous state in the six deaf siblings Figure 3.


Orphanet: Pendred syndrome

Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from May A correlation between genotype and phenotype was found in 1 patient siindrome enlargement of vestibular aqueduct and endolymphatic duct and sac at magnetic resonance imaging.

The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. For information on selection criteria, click here. Dawson PA, Markovich D. PDS follows an autosomal recessive pattern of inheritance. The syndrome of sporadic goiter and congenital deafness. The hearing loss typically worsens over the years, and progression can be step-wise and related to minor head trauma. Int J Pediatr Otorhinolaryngol.

Resistance to thyroid hormone. Molecular analysis of the Pendred’s syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred’s syndrome.

Congenital Hypothyroidism: Recent Advances In Molecular Genetics

Nature ; Pendred syndrome is caused by mutations in a putative sulphate transporter gene PDS. Check this box if you wish to receive a copy of your message.

Similar articles in PubMed. Pendred syndrome maps to chromosome 7q and is caused by an intrinsic defect in thyroid iodine organification. DNA banking is the storage of DNA typically extracted from white blood cells for possible future lendred.

Furthermore, we review recent data from studies that have contributed to the understanding of the physiopathological roles of pendrin in humans. It has been shown that defects in chloride transport may lead to toxic and osmotic injury to the neuroepithelium, resulting in the progressive sensorineural hearing loss observed in PS patients J Clin Endocrinol Metab ;84 7: Recent insights in the pathogenesis of neonatal hypothyroidism.


The outcome of testing varies by ethnicity and phenotype. J Clin Endocrinol Metab. The reasons for the characteristic hearing phenotype are probably related to the functions of pendrin in the inner ear, where it is presumed to participate in the formation and resorption of the endolymph.


NSEVA is also referred to as: The mRNA product is approximately 5 kb long, with an open reading frame of bases, producing the amino-acid protein pendrin. The optimal time for clarification of carrier status and discussion of the availability of prenatal testing is before pregnancy.

ee Semiannual or annual examination by a physician familiar with hereditary hearing impairment. Everett LA, Green E.

It should be noted that the structural gene for thyroglobulin is in this segment. However, SLC26A4 mutants are associated with variable thyroid dysfunction in affected subjects.