A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3191-3195

  Rasmussen, Maria ^a   Ramsing, Mette ^a   Petersen, Olav Bjørn ^a   Vogel, Ida ^a   Sunde, Lone ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Fetus; HNF1B; Kidney; MODY5; Renal cysts and diabetes syndrome

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

ADULT; ARTICLE; AUTOPSY; CASE REPORT; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; FATHER; FETUS; GENE MUTATION; GENITAL MALFORMATION; HNF1B GENE; HUMAN; KARYOTYPE 46,XY; KIDNEY HYPERTROPHY; KIDNEY MALFORMATION; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PREGNANCY TERMINATION; PRIORITY JOURNAL; SIBLING;

FETUS; HNF1B; KIDNEY; MODY5; RENAL CYSTS AND DIABETES SYNDROME;

ABORTED FETUS; ADOLESCENT; ADULT; AUTOPSY; CENTRAL NERVOUS SYSTEM DISEASES; DENTAL ENAMEL; DIABETES MELLITUS, TYPE 2; EXONS; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; KIDNEY CALCULI; KIDNEY DISEASES, CYSTIC; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PREGNANCY;

EID: 84888066181     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36190     Document Type: Article

References (7)

1. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noel LH, Velho G, Timsit J. 2004. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 140:510-517.
2. Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C. 2007. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 18:923-933.
3. Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanne-Chantelot C, Chauveau D, 2007. Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion. Am J Kidney Dis 50:1023-1027.
4. Faguer S, Decramer S, Chassaing N, Bellanne-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengele JP, Dahan K, Ronco P, Devuyst O, Chauveau D. 2011. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 80:768-776.
5. Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S. 2006. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet 15:2363-2375.
6. Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, Gübler, MC, Antignac C, Heidet L. 2013. Severe prenatal renal anomalies associated with mutations in HNF1B and PAX2 genes. J Am Soc Nephrol 8:1179-1187.
7. Wang C, Zhang R, Lu J, Jiang F, Hu C, Zhou J, Liu F, Zhang F, Qin W, Li M, Ma X, Yan J, Bao Y, Xiang K, Jia W. 2012. Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1beta mutations. Diabetes Res Clin Pract 95:119-124.