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Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

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  • معلومة اضافية
    • المصدر:
      Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: London : BioMed Central, [2000-
    • الموضوع:
      Amino Acid Substitution*; Connexins/*genetics ; Keratitis/*genetics ; Sequence Analysis, DNA/*methods; Argentina ; Child, Preschool ; Connexin 26 ; Genetic Predisposition to Disease ; Humans ; Male
    • نبذة مختصرة :
      Background: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described.
      Case Presentation: We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution.
      Conclusion: This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.
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    • Contributed Indexing:
      Keywords: Connexin; Deafness; GJB2; KID syndrome; Mutations; p.Asp50Asn
    • الرقم المعرف:
      0 (Connexins)
      0 (GJB2 protein, human)
      127120-53-0 (Connexin 26)
    • الموضوع:
      Keratitis-Ichthyosis-Deafness Syndrome
    • الموضوع:
      Date Created: 20160505 Date Completed: 20170428 Latest Revision: 20211204
    • الموضوع:
      20221213
    • الرقم المعرف:
      PMC4855445
    • الرقم المعرف:
      10.1186/s12881-016-0298-y
    • الرقم المعرف:
      27141831