Progress in Understanding GJB2-Linked Deafness

Gualandi, Francesca; Calzolari, Elisa

doi:10.1159/000078156

Cited by 6 publications

(4 citation statements)

References 46 publications

(63 reference statements)

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“…The data from the two sperm banks showed that 18.6% and 14.4% of qualified sperm donors in China were carriers of pathogenic variants of GJB2. This is higher than the carrier frequencies for GJB2 that were previously reported ( 15 , 16 ). However, this is not surprising, as previous studies on carrier frequencies tested for known mutations, whereas the exome sequencing at these two clinics explored the entire coding region of most genes.…”

Section: Discussioncontrasting

confidence: 55%

Genetic testing of sperm donors in China: a survey of current practices

Huang

Wang²,

et al. 2023

Front. Endocrinol.

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BackgroundThe National Health and Family Planning Commission of China (NHFPCC) issued the “Measures for the Management of Human Sperm Banks,” which was revised in 2003 and is still in effect today. One of the standard guidelines is that potential donors undergo laboratory testing to exclude infectious and genetic diseases and karyotype analysis. However, patient demands for donor genetic testing have also increased, and only karyotype analysis to exclude genetic diseases is not sufficient to meet these demands.ObjectiveTo examine donor genetic screening practices at sperm banks in China and to evaluate the qualifications and skills of genetic counselors at the banks.Materials and methodsAn electronic survey was distributed to twenty-seven sperm banks to examine donor genetic screening practices at sperm banks in China and to evaluate the qualifications and skills of genetic counselors at the banks. Twenty-six human sperm banks responded to a 32-question survey about their current practices related to genetic testing of sperm donors.ResultsThe 26 sperm banks reported that all qualified sperm donors undergo karyotype analysis; 22 banks (84.6%) collected three generations of family history from each qualified sperm donor; 10 (38.5%) reported that they attempted to accommodate special requests from donor semen recipients for particular genetic tests. Only 2 of the 26 (7.7%) sperm banks reported that they performed whole-exome sequencing. At all the sperm banks, consent for genetic testing was obtained as part of the overall contract for sperm donors. Nineteen (73.1%) sperm banks had genetic counselors on their staff, while six (23.1%) had no genetic counselors on their staff but had access to genetic counselors at the hospital. Only one (3.8%) sperm bank had no genetic counselors on their staff or at the hospital.ConclusionsThe need for larger scale genetic testing of donors and recipients and an extensive panel of genetic tests specific to the Chinese population. Additionally, professionally trained geneticists must be employed as genetic counsellors so that the results of genetic tests and their implications can be explained to donors.

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Section: Discussioncontrasting

confidence: 55%

Genetic testing of sperm donors in China: a survey of current practices

Huang

Wang²,

et al. 2023

Front. Endocrinol.

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“…A perturbation of this protein product may cause alterations in the potassium homeostasis within the cell and results in cell death and subsequent deafness [20]. This pathophysiology would suggest that the effect of a cochlear implant to stimulate the auditory nerve would be successful and contribute to spoken language development.…”

Section: Discussionmentioning

confidence: 99%

GJB2 mutations and additional disabilities in a pediatric cochlear implant population

Wiley

Choo

Meinzen‐Derr

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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“…Non-syndromic deafness is a partial or total loss of hearing that is not associated with other pathologies, and occurs in ~1 in 1000 newborn children. Cx26 mutations contribute to ~50% of genetic deafness and hearing loss can range from mild to profound, be stable or progressive, and impact different sound frequencies [32, 33]. An abundance of data suggests that either partial or total loss of function mutations in Cx26 contribute to non-syndromic deafness [34, 35].…”

Section: Human Disorders Caused By Connexin Mutationsmentioning

confidence: 99%

Human diseases associated with connexin mutations

Srinivas

Verselis

White

2018

Biochimica et Biophysica Acta (BBA) - Biomembranes

128

124

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Gap junctions and hemichannels comprised of connexins impact many cellular processes. Significant advances in our understanding of the functional role of these channels have been made by the identification of a host of genetic diseases caused by connexin mutations. Prominent features of connexin disorders are the inability of other connexins expressed in the same cell type to compensate for the mutated one, and the ability of connexin mutants to dominantly influence the activity of other wild-type connexins. Functional studies have begun to identify some of the underlying mechanisms whereby connexin channel mutation contributes to the disease state. Detailed mechanistic understanding of these functional differences will help to facilitate new pathophysiology driven therapies for the diverse array of connexin genetic disorders. This article is part of a Special Issue entitled: Gap Junction Proteins edited by Jean Claude Herve.

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Progress in Understanding GJB2-Linked Deafness

Cited by 6 publications

References 46 publications

Genetic testing of sperm donors in China: a survey of current practices

Genetic testing of sperm donors in China: a survey of current practices

GJB2 mutations and additional disabilities in a pediatric cochlear implant population

Human diseases associated with connexin mutations

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