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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Authors
  • Nagara, Majdi1
  • Papagregoriou, Gregory2
  • Ben Abdallah, Rim3
  • Landoulsi, Zied4
  • Bouyacoub, Yosra4
  • Elouej, Sahar4
  • Kefi, Rym4
  • Pippucci, Tommaso5
  • Voskarides, Konstantinos2
  • Bashamboo, Anu6
  • McElreavey, Kenneth6
  • Hachicha, Mongia3
  • Romeo, Giovanni5
  • Seri, Marco5
  • Deltas, Constantinos2
  • Abdelhak, Sonia4
  • 1 Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), 1002 Tunis, Tunisia; Aix Marseille University, Medical Genetics & Functional Genomics, UMR_S 910 Inserm, 13385 Marseille, France. Electronic address: [email protected] , (France)
  • 2 Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus. , (Cyprus)
  • 3 Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia. , (Tunisia)
  • 4 Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), 1002 Tunis, Tunisia. , (Tunisia)
  • 5 U.O. Genetica Medica, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy. , (Italy)
  • 6 Human Developmental Genetics, Institut Pasteur, Paris, France. , (France)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Oct 09, 2017
Identifiers
DOI: 10.1016/j.ejmg.2017.10.002
PMID: 29024829
Source
Medline
Keywords
License
Unknown

Abstract

To our knowledge, this is the first report describing a Libyan patient with dRTA who suffered from early-onset sensorineural hearing loss, with a digenic mode of inheritance, supported by the identification of two novel mutations. This study increases the understanding of how dRTA is genetically transmitted, while offers a good outline towards the molecular diagnostics and genetic counseling for dRTA in Lybians.

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