A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome

Park, Moo Kyun; Sagong, Borum; Lee, Jong Dae; Bae, Seung Hyun; Lee, Byeonghyeon; Choi, Kwang Shik; Choo, Yeon‐Sik; Lee, Kyu Yup; Kim, Un Kyung

doi:10.1016/j.ijporl.2014.08.009

Cited by 4 publications

(5 citation statements)

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“…Of the mutations in human mtDNA, A1555G is one of the most common pathogenic mutations associated with aminoglycoside ototoxicity (6). However, increasing evidence has shown that the A1555G mutation cannot directly lead to hearing loss, as among pedigrees with maternally inherited deafness, a certain number of members (despite carrying the A1555G mutation) exhibit different levels of hearing, ranging from normal to profound hearing loss (7)(8)(9)(10)(11). Therefore, aminoglycosides, nuclear-encoded genes and the mtDNA genetic background may actively function in the occurrence of deafness (12,13).…”

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confidence: 99%

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment

et al. 2018

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The role of mitochondrial (mt)DNA variations in hearing loss have been studied extensively; in particular, the well-known pathogenic A1555G mutation in the human mitochondrial 12S ribosomal RNA gene is associated with aminoglycoside-induced and non-syndromic hearing loss. The present paper described a Chinese pedigree with hearing impairments. We first performed polymerase chain reaction and direct sequence analysis for the mtDNA genes.

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Section: Introductionmentioning

confidence: 99%

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment

et al. 2018

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“…P endred syndrome (PS) is an autosomal recessive disease, characterised by functional impairment of the thyroid gland due to thyroid dyshormonogenesis, sensorineural hearing loss, and developmental malformations of the inner ear (1,2). In about 30% of patients dyshormonogenesis is present at birth and is diagnosed by neonatal screening for congenital hypothyroidism (CH).…”

Section: Introductionmentioning

confidence: 99%

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Zheng

Zhang

et al. 2016

Arch. Endocrinol. Metab.

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Objective: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods: Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by nextgeneration sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results: Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions: The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH. Arch Endocrinol Metab. 2016;60(4):323-7

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“…Approximately 70 % of hereditary SNHL cases are recognized as non-syndromic, which refers to hearing loss not accompanied by any clinical signs or symptoms [ 7 – 9 ]. Among non-syndromic hearing loss cases, approximately 75–80 % of cases are defined as autosomal recessive (DFNB), 10–20 % as autosomal dominant (DFNA), 1 % as X-linked, and less than 1 % as mitochondrial inheritance [ 4 , 10 ]. Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically heterogeneous, and 33 related genes have been reported to date ( http://hereditaryhearingloss.org/ ).…”

Section: Introductionmentioning

confidence: 99%

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

Ryu

Sagong

Park³

et al. 2016

BMC Med Genet

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BackgroundOne of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutamate transporter 3 (VGLUT3), and among its isoforms (VGLUT1-3), only VGLUT3 is expressed selectively in the inner hair cells (IHCs). VGLUT3 transports the neurotransmitter glutamate into the synaptic vesicles of the IHCs. Mutation of the SLC17A8 gene is reported to be associated with DFNA25 (deafness, autosomal dominant 25), an autosomal dominant non-syndromic hearing loss (ADNSHL) in humans.MethodsIn this study, we performed a genetic analysis of 87 unrelated Korean patients with ADNSHL to determine whether the SLC17A8 gene affects hearing ability in the Korean population.ResultsWe found a novel heterozygous frameshift mutation, 2 non-synonymous variations, and a synonymous variation. The novel frameshift mutation, p.M206Nfs*4, in which methionine is changed to asparagine at amino acid position 206, resulted in a termination codon at amino acid position 209. This alteration is predicted to encode a truncated protein lacking transmembrane domains 5 to 12. This mutation is located in a highly conserved region in VGLUT3 across multiple amino acid alignments in different vertebrate species, but it was not detected in 100 unrelated controls who had normal hearing ability. The results from our study suggest that the p.M206Nfs*4 mutation in the SLC17A8 gene is likely a pathogenic mutation that causes ADNSHL.ConclusionOur findings can facilitate the prediction of the primary cause of ADNSHL in Korean patients.

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A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome

Cited by 4 publications

References 12 publications

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

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