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

We report a patient who presented with anophthalmia, panhypopituitarism, ea rly onset of end stage renal failure, and craniofacial abnormalities. MRI a t age 3 revealed that the pituitary was absent and renal biopsy demonstrate d nephronophthisis as the cause of the renal failure. A similar syndrome ha s been associated with interstitial deletions of chromosome 14q22 and in on e case hemizygosity for SIX6 was demonstrated. The patient reported here ha d a normal karyotype and Southern blot did not reveal loss of one copy of S IX6. We discuss other possible candidate genes that could be implicated in this syndrome. (C) 2001 Wiley-Liss, Inc.