Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

摘要: Hereditary hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease (OMIM 145001) that has recently been mapped to chromosomal region 1q21-q32 (HRPT2). Here we report two families with HPT-JT in which adult renal hamartomas or cystic kidney were prominent associated features, possibly representing a new phenotypic variant of the syndrome. In first family, lesions present five out six affected individuals, whereas HPT and JT seen four cases, respectively. second was found three individuals members also exhibited polycystic disease. The possibility latter cosegregating as separate gene can not be ruled out. A sex-dependent penetrance primary HPT, resulting predominantly male-affected cases evident families. Twenty microsatellite markers HRPT2 typed, addition multiple endo...