Abstract

Mutations of the transcription factor SIX2 have been associated with renal hypodysplasia, renal cysts or vesicoureteric reflux. Here, we aimed at confirming the role and the prevalence of SIX2 mutations in a large cohort of 125 individuals with various congenital abnormalities of kidneys and urinary tract. Despite extensive sequencing of all exons and intron-exon boundaries, we failed to detect any SIX2 variation suggesting that SIX2 molecular analysis should not yet be recommended in clinical practice but restricted to research programs.

Links

Publisher Full Text

Authors

Faguer S, Chassaing N, Bandin F, Prouheze C, Chauveau D, Decramer S

Institution

Nephrology and Transplantation Department, University Hospital of Toulouse, Toulouse, France. stanislas.faguer@inserm.fr

Source

European journal of medical genetics 55:12 2012 Dec pg 688-9

MeSH

Adolescent
Adult
Aged
Child
Child, Preschool
Female
Homeodomain Proteins
Humans
Infant
Infant, Newborn
Kidney Diseases
Male
Middle Aged
Mutation
Nerve Tissue Proteins
Urinary Tract
Young Adult

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22809486