BACKGROUND: Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred. METHODS: Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed. RESULTS: In the Belgian kindred linkage to the MCKD1 locus on chromosome 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clinical symptoms and age of onset of renal failure was detected. CONCLUSION: We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.
BACKGROUND: Autosomal-dominant medullary cystic kidney disease type 1 (MCKD1) is a tubulointerstitial nephropathy that causes renal salt wasting and end-stage renal failure in the sixth decade of life. The chromosomal locus for MCKD1 was localized to chromosome 1q21 in a Cyprotic kindred. In this report we describe further refinement of the critical genetic region by a recombination in a Belgian kindred. METHODS: Clinical data and blood samples of 33 individuals from a large Belgian kindred were collected and high-resolution haplotype analysis was performed. RESULTS: In the Belgian kindred linkage to the MCKD1 locus on chromosome 1q21 was found with a logarithm of odds (LOD) score significant for linkage. A recombination in individual III:7 for marker D1S2624 refines the critical genetic region to 2.1 Mb. In this kindred a wide variety of clinical symptoms and age of onset of renal failure was detected. CONCLUSION: We confirm the MCKD1 locus on chromosome 1q21 and show further refinement of the MCKD1 locus to 2.1 Mb. This allowed us to exclude another 17 genes as positional candidate genes.
Authors: Matthias T F Wolf; Bettina E Mucha; Hans C Hennies; Massimo Attanasio; Franziska Panther; Isabella Zalewski; Stephanie M Karle; Edgar A Otto; C Constantinou Deltas; Arno Fuchshuber; Friedhelm Hildebrandt Journal: Hum Genet Date: 2006-04-26 Impact factor: 4.132
Authors: Anthony J Bleyer; Stanislav Kmoch; Corinne Antignac; Vicki Robins; Kendrah Kidd; John R Kelsoe; Gerald Hladik; Philip Klemmer; Stephen J Knohl; Steven J Scheinman; Nam Vo; Ann Santi; Alese Harris; Omar Canaday; Nelson Weller; Peter J Hulick; Kristen Vogel; Frederick F Rahbari-Oskoui; Jennifer Tuazon; Constantinos Deltas; Douglas Somers; Andre Megarbane; Paul L Kimmel; C John Sperati; Avi Orr-Urtreger; Shay Ben-Shachar; David A Waugh; Stella McGinn; Anthony J Bleyer; Katerina Hodanová; Petr Vylet'al; Martina Živná; Thomas C Hart; P Suzanne Hart Journal: Clin J Am Soc Nephrol Date: 2014-02-07 Impact factor: 8.237
Authors: Jan M Williams; Ashley C Johnson; Cary Stelloh; Albert W Dreisbach; Nora Franceschini; Kevin R Regner; Raymond R Townsend; Richard J Roman; Michael R Garrett Journal: Hypertension Date: 2012-09-17 Impact factor: 10.190