Cargando…

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred synd...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lu, Ya-Ting, Wang, Lin, Hou, Le-Le, Zheng, Ping-Ping, Xu, Qian, Deng, Da-Tong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9439793/ https://www.ncbi.nlm.nih.gov/pubmed/36107570 http://dx.doi.org/10.1097/MD.0000000000030253

Ejemplares similares

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
por: Li, Mengnan, et al.
Publicado: (2020)

Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome
por: Yazdanpanahi, Nasrin, et al.
Publicado: (2013)

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question
por: Tesolin, Paola, et al.
Publicado: (2021)

Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
por: Zhu, Kang, et al.
Publicado: (2023)

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
por: Landa, Priya, et al.
Publicado: (2013)

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
por: Chow, Yock-Ping, et al.
Publicado: (2017)

Pendred syndrome with hyperthyroidism
por: Kusano, Yoshiro
Publicado: (2020)

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes
por: Lindberg, Eva, et al.
Publicado: (2020)

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
por: Ganaha, Akira, et al.
Publicado: (2013)

Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo−Pendred Syndrome?
por: Kara, Cengiz, et al.
Publicado: (2010)

Life-threatening metabolic alkalosis in Pendred syndrome
por: Kandasamy, Narayanan, et al.
Publicado: (2011)

Hoffmann’s Syndrome Secondary to Pendred Syndrome: A Rare Case
por: Tahir, Faryal, et al.
Publicado: (2019)

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome
por: Skrivan, Jiri, et al.
Publicado: (2021)

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
por: Zhang, Chang-Run, et al.
Publicado: (2022)

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene
por: Chen, Qin, et al.
Publicado: (2018)

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
por: Zhang, Chuan, et al.
Publicado: (2020)

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model
por: Jabba, Sairam V, et al.
Publicado: (2006)

Goiter and hearing impairment: A case of a male patient with Pendred syndrome
por: HU, ER-WEI, et al.
Publicado: (2014)

The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome
por: Maler, Neal, et al.
Publicado: (2021)

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4
por: Fujioka, Masato, et al.
Publicado: (2020)

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards
por: Poon, Kok-Siong, et al.
Publicado: (2021)

Transcriptomic Analysis Reveals an Altered Hcy Metabolism in the Stria Vascularis of the Pendred Syndrome Mouse Model
por: Xue, Wenyue, et al.
Publicado: (2021)

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis
por: Lu, Ya-Jie, et al.
Publicado: (2015)

SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice
por: Li, Xiangming, et al.
Publicado: (2013)

Role of SLC4 and SLC26 solute carriers during oxidative stress
por: Remigante, Alessia, et al.
Publicado: (2022)

Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations
por: Yao, Jun, et al.
Publicado: (2015)

A rare case of hypokalemia-induced rhabdomyolysis
por: He, Rong, et al.
Publicado: (2018)

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations
por: Wu, Che-Ming, et al.
Publicado: (2015)

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model
por: Wangemann, Philine, et al.
Publicado: (2004)

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
por: Cirello, Valentina, et al.
Publicado: (2018)

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
por: Kim, SungHee, et al.
Publicado: (2009)

Hypokalemia and rhabdomyolysis
por: Horwitz, Henrik, et al.
Publicado: (2015)

A rare case of watery diarrhea, hypokalemia and achlorhydria syndrome caused by pheochromocytoma
por: Jiang, Jingjing, et al.
Publicado: (2014)

Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study
por: Miyagawa, Maiko, et al.
Publicado: (2014)

Involvement of Cl(−)/HCO(3)(−) exchanger SLC26A3 and SLC26A6 in preimplantation embryo cleavage
por: Lu, Yong Chao, et al.
Publicado: (2016)

Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations
por: Rajalakshmi, Krishna, et al.
Publicado: (2023)

Persistent Hypokalemia in a Patient With Ogilvie’s Syndrome
por: Dolkar, Tsering, et al.
Publicado: (2022)

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
por: Fu, Chunyun, et al.
Publicado: (2015)

The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice
por: Yamaguchi, Naoya, et al.
Publicado: (2022)

Use of Aldosterone Antagonist to Treat Diarrhea and Hypokalemia of Ogilvie's Syndrome
por: Ram, Pradhum, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_r1om8fe9ivk4jcasgt6ciaf6am