A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

Han, Mingyu; Li, Zhifeng; Wang, Wenlu; Huang, Shasha; Lu, Yanping; Gao, Zhiying; Wang, Longxia; Kang, Dongyang; Li, Linwei; Xu, Mengnan; Cram, David S.; Dai, Pu

doi:10.1038/gim.2017.54

Cited by 38 publications

(36 citation statements)

References 22 publications

(29 reference statements)

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“…Our diagnostic accuracy of 92.6% is comparable to NIPT for monogenic diseases reported in other studies; 32 however, RHDO shows higher levels of concordance, 26,28,30 so our test still needs improvement. We obtained three FN results and further work will be required to reduce these.…”

Section: Discussionsupporting

confidence: 66%

Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study

Xiong

Barrett

Hua

et al. 2018

BJOG

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Section: Discussionsupporting

confidence: 66%

Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study

Xiong

Barrett

Hua

et al. 2018

BJOG

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“…2015) and cSMART (Chen et al . 2016; Han et al . 2017) have been reported in β thalassemia, cystic fibrosis, thanatophoric dysplasia, Wilson disease and autosomal recessive nonsyndromic hearing loss, respectively.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

Han

Chen

Guo

et al. 2018

Preprint

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Phone number: +86 02259096488 23 36 invasive prenatal diagnosis, which was interpreted in a blinded fashion. Three fetuses 37 were identified as compound heterozygosity of MMACHC, 9 fetuses were carriers of 38 MMACHC variant, and 9 fetuses were normal. These results indicated that the 39 haplotype-based NIPT for MMA through small target capture region sequencing is 40 technically accurate and feasible. 41 42

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“…Recessive variants of the SLC26A4 (Gene ID: 5172) gene are considered as a common cause of hereditary hearing impairment (HHI) worldwide [1]. In certain populations, pathogenic SLC26A4 variants can be identified in approximately 15-20 % patients with HHI [2]. SLC26A4 encodes for pendrin, a chloride bicarbonate transporter, which is mainly expressed in the thyroid, inner ears, kidneys, lungs, liver, and heart [3,4].…”

Section: Introductionmentioning

confidence: 99%

Toward the pathogenicity of the SLC26A4 p.C565Y variant using a genetically driven mouse model

Yang

et al. 2020

Preprint

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Recessive variants of the SLC26A4 gene are a common cause of hearing impairment worldwide. In the past, cell lines and transgenic mice have been widely used to investigate the pathogenicity associated with the SLC26A4 variants. However, discrepancies in the pathogenicity between humans and cell lines or transgenic mice have been documented for some of the SLC26A4 variants. For instance, the p.C565Y variant, which has been reported to be pathogenic in humans, did not exhibit functional pathogenic consequences in cell lines. To address the pathogenicity of p.C565Y, we used a genotype-based approach in which we generated knock-in mice heterozygous (Slc26a4 +/C565Y ), homozygous (Slc26a4 C565Y/C565Y ), and compound heterozygous (Slc26a4 919-2A>G/C565Y ) for this variant. Subsequent phenotypic characterization revealed that mice segregating these genotypes demonstrated normal auditory and vestibular functions and normal inner ear morphology and expression of pendrin. These findings indicate that the p.C565Y variant is non-pathogenic for mice and that a single p.C565Y allele is sufficient to maintain normal inner ear physiology in mice. Our results highlight the differences in the pathogenicity associated with certain SLC26A4 variants between transgenic mice and humans, which should be taken into consideration while interpreting the results of animal studies for SLC26A4-related deafness.

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A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

Cited by 38 publications

References 22 publications

Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study

Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

Toward the pathogenicity of the SLC26A4 p.C565Y variant using a genetically driven mouse model

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