DOOR syndrome

Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex

Sankar Surendran, Kimberlee Michals-Matalon, Stephan Krywawych, Qutub H. Qazi, Roberto Tuchman, Peter L. Rady, Stephan K. Tyring, Reuben Matalon

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Four patients from three families with the clinical features of DOOR syndrome (onycho-osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2-oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease, wherein the activity of 2-oxoglutarate decarboxylase (E10) in fibroblasts and white blood cells of the patients is decreased. The activity of E10 in all patients' fibroblasts and white blood cells was significantly lower compared to the controls. This study demonstrates for the first time that E10 deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome.

Original languageEnglish (US)
Pages (from-to)371-374
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume113
Issue number4
DOIs
StatePublished - Dec 15 2002

Fingerprint

Ketoglutarate Dehydrogenase Complex
2-oxoglutarate decarboxylase
Leukocytes
Fibroblasts
Thumb
Deafness
Biomarkers
Digitorenocerebral Syndrome

Keywords

  • Deafness
  • DOOR syndrome
  • E1 deficiency
  • Mental retardation
  • OGDH
  • Onycho-osteodystrophy

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q. H., Tuchman, R., Rady, P. L., ... Matalon, R. (2002). DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. American Journal of Medical Genetics, 113(4), 371-374. https://doi.org/10.1002/ajmg.b.10804

DOOR syndrome : Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. / Surendran, Sankar; Michals-Matalon, Kimberlee; Krywawych, Stephan; Qazi, Qutub H.; Tuchman, Roberto; Rady, Peter L.; Tyring, Stephan K.; Matalon, Reuben.

In: American Journal of Medical Genetics, Vol. 113, No. 4, 15.12.2002, p. 371-374.

Research output: Contribution to journalArticle

Surendran, S, Michals-Matalon, K, Krywawych, S, Qazi, QH, Tuchman, R, Rady, PL, Tyring, SK & Matalon, R 2002, 'DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex', American Journal of Medical Genetics, vol. 113, no. 4, pp. 371-374. https://doi.org/10.1002/ajmg.b.10804
Surendran S, Michals-Matalon K, Krywawych S, Qazi QH, Tuchman R, Rady PL et al. DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. American Journal of Medical Genetics. 2002 Dec 15;113(4):371-374. https://doi.org/10.1002/ajmg.b.10804
Surendran, Sankar ; Michals-Matalon, Kimberlee ; Krywawych, Stephan ; Qazi, Qutub H. ; Tuchman, Roberto ; Rady, Peter L. ; Tyring, Stephan K. ; Matalon, Reuben. / DOOR syndrome : Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. In: American Journal of Medical Genetics. 2002 ; Vol. 113, No. 4. pp. 371-374.
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