10p12.1 deletion: HDR phenotype without DGS2 features.
Exp Mol Pathol
; 86(1): 74-6, 2009 Feb.
Article
em En
| MEDLINE
| ID: mdl-19022243
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 10
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Síndrome de DiGeorge
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Fator de Transcrição GATA3
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Perda Auditiva Neurossensorial
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Hipoparatireoidismo
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Nefropatias
Limite:
Child
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Exp Mol Pathol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Itália