Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure

M. A. Rigola, A. Plaja, C. Mediano, R. Miró, J. Egozcue, C. Fuster

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5 Citations (Scopus)

Abstract

We report a patient who presented with anophthalmia, panhypopituitarism, early onset of end stage renal failure, and craniofacial abnormalities. MRI at age 3 revealed that the pituitary was absent and renal biopsy demonstrated nephronophthisis as the cause of the renal failure. A similar syndrome has been associated with interstitial deletions of chromosome 14q22 and in one case hemizygosity for SIX6 was demonstrated. The patient reported here had a normal karyotype and Southern blot did not reveal loss of one copy of SIX6. We discuss other possible candidate genes that could be implicated in this syndrome. © 2001 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)31-36
JournalAmerican Journal of Medical Genetics
Volume104
Issue number1
DOIs
Publication statusPublished - 15 Nov 2001

Keywords

  • Anophthalmia
  • Nephronophthisis
  • Panhypopituitarism
  • SIX6

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