SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis (Q50446463)

14 March 2018

title

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis (English)

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Thomas B Friedman

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Saima Riazuddin

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Saima Riazuddin

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Sheikh Riazuddin

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Sheikh Riazuddin

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Saima Anwar

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Saima Anwar

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14 March 2018

Saba Tasneem

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Saba Tasneem

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Ateeq-Ul Jaleel

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Ateeq-ul-Jaleel

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14 March 2018

author name string

Zubair M Ahmed

3

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Shahid Y Khan

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Andrew J Griffith

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publication date

13 March 2009

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14 March 2018

Journal of Human Genetics

published in

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volume

54

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issue

5

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page(s)

266-270

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

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A mutation in PDS causes non-syndromic recessive deafness

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ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

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Pendred syndrome and iodide transport in the thyroid

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GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

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Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

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SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.

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Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

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USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

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Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

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Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan

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Tricellulin is a tight-junction protein necessary for hearing

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Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

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Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

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Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

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Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism

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Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

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The responsible genes in Japanese deafness patients and clinical application using Invader assay.

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Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

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Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation

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7 January 2021

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

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7 January 2021

Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation.

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Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

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7 January 2021

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

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7 January 2021

Mutations of MYO6 are associated with recessive deafness, DFNB37

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7 January 2021

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

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7 January 2021

Identifiers

DOI

10.1038/JHG.2009.21

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14 March 2018

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14 March 2018