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PAX2 mutations in fetal renal hypodysplasia
American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.830-835
Martinovic-Bouriel, Jelena
Benachi, Alexandra
Bonnière, Maryse
Brahimi, Nora
Esculpavit, Chantal
Morichon, Nicole
Vekemans, Michel
Antignac, Corinne
Salomon, Rémi
Encha-Razavi, Féréchté
Attié-Bitach, Tania
Gubler, Marie-Claire
2010
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Martinovic-Bouriel, Jelena
Benachi, Alexandra
Bonnière, Maryse
Brahimi, Nora
Esculpavit, Chantal
Morichon, Nicole
Vekemans, Michel
Antignac, Corinne
Salomon, Rémi
Encha-Razavi, Féréchté
Attié-Bitach, Tania
Gubler, Marie-Claire
Titel
PAX2 mutations in fetal renal hypodysplasia
Ist Teil von
American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.830-835
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Quelle
MEDLINE
Beschreibungen/Notizen
Papillorenal syndrome also known as renal‐coloboma syndrome (OMIM 120330) is an autosomal dominant condition comprising optic nerve anomaly and renal oligomeganephronic hypoplasia. This reduced number of nephron generations with compensatory glomerular hypertrophy leads towards chronic insufficiency with renal failure. We report on two fetuses with PAX2 mutations presenting at 24 and 18 weeks' gestation, respectively, born into two different sibships. In our first patient, termination of pregnancy was elected for anhydramnios and suspicion of renal agenesis in the healthy couple with an unremarkable previous clinical history. This fetus had bilateral asymmetric kidney anomalies including a small multicystic left kidney, and an extremely hypoplastic right kidney. Histology showed dysplastic lesions in the left kidney, contrasting with rather normal organization in the hypoplastic right kidney. Ocular examination disclosed bilateral optic nerve coloboma. The association of these anomalies, highly suggestive of the papillorenal syndrome, led us to perform the molecular study of the PAX2 gene. Direct sequencing of the PAX2 coding sequence identified a de novo single G deletion of nucleotide 935 in exon 3 of the PAX2 resulting in a frameshift mutation (c.392delG, p.Ser131Thrfs*28). In the second family, the presence of a maternally inherited PAX2 mutation led to a decision for termination of pregnancy. The 18‐week gestation fetus presented the papillorenal syndrome including hypoplastic kidneys and optic nerve coloboma. In order to address the PAX2 involvement in isolated renal “disease,” 18 fetuses fulfilling criteria were screened: 10/18 had uni‐ or bilateral agenesis, 6/18 had bilateral multicystic dysplasia with enlarged kidneys, and 2/18 presented bilateral severe hypodysplasia confirmed on fetopathological examination. To the best of our knowledge, our first patient represents an unreported fetal diagnosis of papillorenal syndrome, and another example of the impact of oriented fetopathological examination in genetic counseling of the parents. © 2010 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.33133
Titel-ID: cdi_proquest_miscellaneous_754551517
Format
–
Schlagworte
Adolescent
,
Adult
,
Biological and medical sciences
,
DNA Mutational Analysis
,
Eye - pathology
,
Eye Abnormalities - genetics
,
Eye Abnormalities - pathology
,
Female
,
Fetus - abnormalities
,
Humans
,
Kidney - abnormalities
,
Kidney - pathology
,
Kidney Diseases - genetics
,
Kidney Diseases - pathology
,
Kidneys
,
Malformations of the eye
,
Malformations of the urinary system
,
Medical genetics
,
Medical sciences
,
Mutation - genetics
,
Nephrology. Urinary tract diseases
,
Ophthalmology
,
optic coloboma
,
papillorenal syndrome
,
PAX2 gene
,
PAX2 Transcription Factor - genetics
,
Pregnancy
,
renal agenesis
,
renal hypoplasia/dysplasia
,
renal-coloboma syndrome
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