title: Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure.
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.
authors.affiliation: Renal Division, Washington University School of Medicine, 660 S. Euclid Ave., St. Louis, MO 63110, USA. mrauchma@im.wustl.edu
authors.forename: M
authors.initials: M
authors.lastname: Rauchman
authors.forename: W H
authors.initials: WH
authors.lastname: Hoffman
authors.forename: J D
authors.initials: JD
authors.lastname: Hanna
authors.forename: A S
authors.initials: AS
authors.lastname: Kulharya
authors.forename: R E
authors.initials: RE
authors.lastname: Figueroa
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.forename: C M
authors.initials: CM
authors.lastname: Tuck-Miller
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000853:Anophthalmos / Q000235:genetics*; D002648:Child; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology / Q000235:genetics*; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D051437:Renal Insufficiency / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C491945:SIX6 protein, human; D015534:Trans-Activators