Literature DB >> 1979047

Genetic heterogeneity in tuberous sclerosis.

L A Janssen1, L A Sandkuyl, E C Merkens, J A Maat-Kievit, J R Sampson, P Fleury, R C Hennekam, G C Grosveld, D Lindhout, D J Halley.   

Abstract

Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by widespread hamartosis. Preliminary evidence of linkage between the TSC locus and markers on chromosome 9q34 was established, but subsequently disputed. More recently, a putative TSC locus on chromosome 11 has been suggested and genetic heterogeneity seems likely. Here we describe an approach combining multipoint linkage analysis and heterogeneity tests that has enabled us to obtain significant evidence for locus heterogeneity after studying a relatively small number of families. Our results support a model with two different loci independently causing the disease. One locus (TSC1) maps in the vicinity of the Abelson oncogene at 9q34 and a second locus (TSC2) maps in the region of the anonymous DNA marker Lam L7 and the dopamine D2 receptor gene at 11q23.

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Year:  1990        PMID： 1979047     DOI： 10.1016/0888-7543(90)90277-2

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  13 in total

1.  Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Authors:  H Northrup; D J Kwiatkowski; E S Roach; W B Dobyns; R A Lewis; G E Herman; E Rodriguez; S P Daiger; S H Blanton
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

2.  Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Authors:  L A Janssen; L A Sandkuijl; J R Sampson; D J Halley
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

3.  A newborn with unilateral limb enlargement.

Authors:  Shanel Sharma; Anna P F Maino; Shad M Husain; Gill G W Adams
Journal:  Eur J Pediatr       Date:  2011-12-14       Impact factor: 3.183

4.  Highly informative dinucleotide repeat polymorphism at the D11S29 locus on chromosome 11q23.

Authors:  L Warnich; I Groenewald; L Theart; A E Retief
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

5.  Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Authors:  K S Au; J A Rodriguez; J L Finch; K A Volcik; E S Roach; M R Delgado; E Rodriguez; H Northrup
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

6.  Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Authors:  M Nellist; P T Brook-Carter; J M Connor; D J Kwiatkowski; P Johnson; J R Sampson
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

7.  Phenotype-genotype correlations in X linked retinitis pigmentosa.

Authors:  J Kaplan; A Pelet; C Martin; O Delrieu; S Aymé; D Bonneau; M L Briard; A Hanauer; L Larget-Piet; P Lefrançois
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

8.  A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus.

Authors:  R Fahsold; H D Rott; P Lorenz
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

9.  Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Authors:  J R Sampson; L A Janssen; L A Sandkuijl
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

10.  Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.

Authors:  B Janssen; J Sampson; M van der Est; W Deelen; S Verhoef; I Daniels; A Hesseling; P Brook-Carter; M Nellist; D Lindhout
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132
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