Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis
- Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); and others
Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three-generation kindred of a spectrum of kidney anomalies consistent with an autosomal-dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grandmother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband`s mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3{prime}-HVR, GGG1, GGG9, SM-7, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD-1) and tuberous sclerosis (TSC-2) loci on chromosome 16p was evaluated by Southern blot typing for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half-sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal-dominant mode of transmission with variable expressions and incomplete penetrance. 23 refs., 4 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443813
- Journal Information:
- American Journal of Medical Genetics, Vol. 59, Issue 2; Other Information: PBD: 6 Nov 1995
- Country of Publication:
- United States
- Language:
- English
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