title: 10p12.1 deletion: HDR phenotype without DGS2 features.
abstract: GATA3 gene encodes a transcription factor expressed during thymus, liver, kidney, adrenal gland, central and peripheral nervous systems, placenta and T lymphocytes embryonic development. Mutations of GATA3 cause Hypoparathyroidism, sensorineural Deafness and Renal dysplasia syndrome (HDR). We report the case of a girl with a terminal deletion of the short arm of chromosome 10 (10p12.1-pter), including both HDR locus and the DiGeorge critical region 2 (DGCR2), with HDR phenotype but not DiGeorge syndrome 2 features. The girl developed chronic renal failure during the first year of life, associated with sensorineural hearing loss, facial dysmorphic features and psychomotor development. She had hypodysplastic kidneys and bilateral grade 3-vesicoureteric reflux. Her karyotype was 46,XX,del(10)(p12.1-pter). Quantitative analysis by Real Time PCR on blood DNA confirmed the lack of one copy of GATA3 gene. She underwent renal transplantation at the age of 11. Our patient is the first case with a large deletion of the short arm of chromosome 10 - that certainly involves DGCR2 - with the HDR phenotype but without the clinical features of DGS2. This peculiarity suggests the hypothesis that the mechanisms underlying this syndrome may be more complex. It is therefore possible that DGS2 may be determined by locus heterogeneity.
authors.affiliation: Pediatric Nephrology, Dialysis and Transplantation Unit, Department of Pediatrics, University of Padua, Via Giustiniani, 3, 35128 Padua, Italy. elisabene@libero.it
authors.forename: Elisa
authors.initials: E
authors.lastname: Benetti
authors.forename: Luisa
authors.initials: L
authors.lastname: Murer
authors.forename: Andrea
authors.initials: A
authors.lastname: Bordugo
authors.forename: Barbara
authors.initials: B
authors.lastname: Andreetta
authors.forename: Lina
authors.initials: L
authors.lastname: Artifoni
mesh_terms: D002648:Child; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics / Q000473:pathology; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007674:Kidney Diseases / Q000235:genetics*; D016030:Kidney Transplantation; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics; D010641:Phenotype; D019038:Platelet Glycoprotein GPIb-IX Complex; D011247:Pregnancy; D013577:Syndrome
chemical_list: D050990:GATA3 Transcription Factor; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D019038:Platelet Glycoprotein GPIb-IX Complex; C094990:adhesion receptor