[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family].
TCF2 gene's mutation of autosomal dominant inheritance, encoding for the HNF-1 beta transcription factor, is associated with monogenic Mody5 diabetes, renal structural and urogenital abnormalities, and hepatic cholestasis. We have identified a family with HNF-1 beta gene's mutation, and very different phenotypic expression: renal abnormalities with cysts, nephrocalcinosis, polyuropolydipsic syndrome, Mody5 diabetes, genital malformations. Molecular analysis identified a mutation of exon 4 of the TCF2 gene. The coexistence in the same family of pleiomorphic renal malformations (cysts, renal agenesia or hypoplasia, renal failure) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.
Services de néphrologie et de pédiatrie, centre de référence des maladies rénales rares du Sud-Ouest, université de Bordeaux, CHU de Bordeaux, Bordeaux, France. claire.rigothier@chu-bordeaux.fr
Claire
C
Rigothier
Jérôme
J
Harambat
Brigitte
B
Llanas
Jean-François
JF
Subra
Christian
C
Combe
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta