Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of thePAX2gene
| Autor: | Irena Andriuskeviciute, Kucinskas Laimutis, Berta Warman, Craig Jackson, Pundziene Birute, Xinjie Xu, Gordana Raca, Rudaitis Sarunas, Lisa A. Schimmenti |
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| Rok vydání: | 2012 |
| Předmět: |
Adolescent
Biopsy PAX2 Biology Kidney urologic and male genital diseases Article otorhinolaryngologic diseases Genetics medicine Humans Renal Insufficiency Child Gene Genetics (clinical) Sequence Deletion Ultrasonography Vesico-Ureteral Reflux Optic nerve hypoplasia Glomerulosclerosis Focal Segmental Point mutation PAX2 Transcription Factor Infant medicine.disease Phenotype Renal hypoplasia eye diseases Coloboma body regions Child Preschool sense organs Haploinsufficiency Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :1437-1441 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.35342 |
| Popis: | We present a patient with optic nerve hypoplasia, secondary strabismus, mild deafness, abnormal external ear helices, and renal hypoplasia. The clinical phenotype was consistent with renal-coloboma syndrome, but no point mutation in the PAX2 gene could be identified. High-resolution array comparative genomic hybridization (aCGH) analysis showed that this patient has a submicroscopic deletion on chromosome 10, affecting the entire coding region of the PAX2 gene. This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma syndrome. |
| Databáze: | OpenAIRE |
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