Two cases of TSC2/PKD1 contiguous gene deletion syndrome
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چکیده
[2]. Sporadic cases constitute two thirds of tuberous sclerosis cases. TSC2 mutations are about four times more frequent in sporadic cases compared to TSC1 mutations and cause a more severe phenotype [3]. Autosomal dominant polycystic kidney disease (ADPKD, MIM#173900) is a common renal disorder, occurring in approximately 1 in every 1,000 live births [4]. It is characterized by progressive bilateral renal cysts leading to renal failure in the fifth to seventh decade of life. Occasionally, liver cysts and intracranial aneurysm may occur. Mutations in PKD1 on 16p13.3, encoding polycystin 1, or PKD2 on 4q22, encoding Two cases of TSC2/PKD1 contiguous gene deletion syndrome
منابع مشابه
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by hamartomatous growth abnormalities in many organs. Epilepsy and mental retardation, typical skin manifestations, intracerebral hamartoma, renal angiomyolipoma, and pulmonary lymphangioleiomyomatosis are among the major diagnostic features of TSC. TSC is thought to affect approximately 1 in every 6000 newborns. It has an aut...
متن کاملONLINE MUTATION REPORT Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by hamartomatous growth abnormalities in many organs. Epilepsy and mental retardation, typical skin manifestations, intracerebral hamartoma, renal angiomyolipoma, and pulmonary lymphangioleiomyomatosis are among the major diagnostic features of TSC. TSC is thought to affect approximately 1 in every 6000 newborns. It has an aut...
متن کاملMolecular analysis of TSC2/PKD1 contiguous gene deletion syndrome.
BACKGROUND Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either of two genes, TSC1 and TSC2. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2. TSC2 lies immediately adjacent to PKD1 and large heterozygous deletions can result in the TSC2/PKD1 contiguous gene syndrome (PKDTS). PKDTS has been identified ...
متن کاملBeyond polycystic kidney disease
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndro...
متن کاملA Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85-90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10-15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations witho...
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