Evaluation of the Thyroid in Patients With Hearing Loss and Enlarged Vestibular Aqueducts

Madeo, Anne C.; Manichaikul, Ani; Reynolds, James C.; Sarlis, Nicholas J.; Pryor, Shannon; Shawker, Thomas H.; Griffith, Andrew J.

doi:10.1001/archoto.2009.66

Cited by 26 publications

(32 citation statements)

References 24 publications

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“…Our results differ from other studies that suggested a strong association between two mutant alleles and PS, defined as the identification of a positive PDT and/or goiter (24,45). However, we studied a larger number of patients with two SLC26A4 mutant alleles, namely 21 patients versus 14 in each of the two previous studies, and we performed a greater number of PDT among those patients, namely 17 patients in our study versus 7 (24) and 9 patients (45) in the two previous studies.…”

Section: Evaluation Of Patients With Pendred Syndrome and Evacontrasting

confidence: 99%

“…This recruitment mode is original and permitted us to examine a wider panel of affected patients, but it introduced a recruitment bias and prevented us from performing statistical analysis in the overall population. Another significant difference with these two previous studies (24,45) is that they were performed in the United States where iodine intake is higher than in France.…”

Section: Evaluation Of Patients With Pendred Syndrome and Evamentioning

confidence: 80%

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Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct

LadsousMiriam¹,

Vlaeminck-GuillemVirginie²,

DumurViviane³

et al. 2014

Thyroid

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The thyroid phenotype is widely variable in PS. SLC26A4 mutation screening is needed in patients exhibiting PS or nonsyndromic EVA. PS is associated with biallelic SLC26A4 mutations and nonsyndromic EVA with no, monoallelic, or biallelic SLC26A4 mutations. Systematic thyroid evaluation is recommended in patients with nonsyndromic EVA associated with one or two SLC26A4 mutations. We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and/or hypothyroidism and/or a positive PDT; (iii) biallelic SLC26A4 mutations.

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Section: Evaluation Of Patients With Pendred Syndrome and Evacontrasting

confidence: 99%

Section: Evaluation Of Patients With Pendred Syndrome and Evamentioning

confidence: 80%

Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct

LadsousMiriam¹,

Vlaeminck-GuillemVirginie²,

DumurViviane³

et al. 2014

Thyroid

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“…The perchlorate discharge phenotype-genotype correlation was dependent upon uniform test procedures and interpretation, and comprehensive screening to exclude patients with other confounding phenotypic abnormalities [35]. Madeo et al [47] used ultrasonography to calculate thyroid gland volume and defined goiter by comparison to published normative data. Thyroid gland enlargement was primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric (<10 years old) EVA patients, but not in older EVA patients [47].…”

Section: Slc26a4 Genotype-phenotype Correlationmentioning

confidence: 99%

“…Madeo et al [47] used ultrasonography to calculate thyroid gland volume and defined goiter by comparison to published normative data. Thyroid gland enlargement was primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric (<10 years old) EVA patients, but not in older EVA patients [47].…”

Section: Slc26a4 Genotype-phenotype Correlationmentioning

confidence: 99%

<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Ito

Choi²,

King³

et al. 2011

Cell Physiol Biochem

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Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect that can lead to thyroid goiter. Pendred syndrome is caused by mutations of the SLC26A4 gene. SLC26A4 mutations may also be identified in some patients with nonsyndromic EVA (NSEVA). The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4. Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric patients, but not in older patients. In M1 families, EVA may be associated with a second, undetected SLC26A4 mutation or epigenetic modifications. In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance.

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“…We also analysed the segregation of EVA and SLC26A4 in families with non-diagnostic SLC26A4 genotypes. Since we have never observed abnormal perchlorate discharge results from EVA patients with non-diagnostic SLC26A4 genotypes,7 18 19 we did not include thyroid phenotype in our analyses. Our results provide insight into the aetiology of EVA and estimates of recurrence risk that will be useful when counselling families.…”

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confidence: 99%

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

Choi

Madeo

King

et al. 2009

Journal of Medical Genetics

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Background Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA patients have non-diagnostic SLC26A4 genotypes with only one or no detectable mutant alleles. Methods and results In this study, the authors were unable to detect occult SLC26A4 mutations in EVA patients with non-diagnostic genotypes by custom comparative genomic hybridisation (CGH) microarray analysis or by sequence analysis of conserved non-coding regions. The authors sought to compare the segregation of EVA among 71 families with two (M2), one (M1) or no (M0) detectable mutant alleles of SLC26A4. The segregation ratios of EVA in the M1 and M2 groups were similar, but the segregation ratio for M1 was significantly higher than in the M0 group. Haplotype analyses of SLC26A4-linked STR markers in M0 and M1 families revealed discordant segregation of EVA with these markers in eight of 24 M0 families. Conclusion The results support the hypothesis of a second, undetected SLC26A4 mutation that accounts for EVA in the M1 patients, in contrast to non-genetic factors, complex inheritance, or aetiologic heterogeneity in the M0 group of patients. These results will be helpful for counselling EVA families with non-diagnostic SLC26A4 genotypes.

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Evaluation of the Thyroid in Patients With Hearing Loss and Enlarged Vestibular Aqueducts

Cited by 26 publications

References 24 publications

Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct

Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct

<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

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