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Summary
PENDRED SYNDROME (PDS)
THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIB THYROID HORMONE ORGANIFICATION DEFECT IIB DEAFNESS WITH GOITER GOITER-
274600
OMIM = Online Medalian Inheritance of Men
705
7q22.3
rare (7.5-10:100000)
autosomal recessive
mutation in the SLC26A4 gene
most common cause of syndromic deafness
symptoms
contractures, joints
ear anomalies (pits, creases)
edema
goiter
hearing defect, deafness
hypothyroidism
onset, infancy
onset, neonatal
short stature
laboratory finding
Thyroid-stimulating hormone (TSH) increasedserum
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Scuderi C,et al.The in cis T251I and P587L POLG1 base changes: description of a new family and literature reviewNeuromuscul Disord254333-3392015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Sofou K,et al.Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.Mol Genet Genomic Med3159-682015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996