Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Literature DB >> 1998334

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

P A Bolhuis¹, G W Hensels, T J Hulsebos, F Baas, P G Barth.

Abstract

X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria is clinically characterized by congenital dilated cardiomyopathy, skeletal myopathy, recurrent bacterial infections, and growth retardation. We analyzed linkage between the disease locus and X-chromosomal markers in a family with seven carriers, four patients, and eight unaffected sons of carriers. Highest lod scores obtained by two-point linkage analysis were 2.70 for St14.1 (DXS52, TaqI) at a recombination fraction of zero and 2.53 for cpX67 (DXS134) at a recombination fraction of zero. Multipoint linkage analysis resulted in a maximum lod score of 5.24 at the position of St35.691 (DXS305). The most distal recombination detected in this family was located between the markers II-10 (DXS466) and DX13 (DXS15). These data indicate the location of the mutated gene at Xq28.

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Genetic Markers

Year: 1991 PMID： 1998334 PMCID： PMC1682968

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

23 in total

1. Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere-fra(X)-DXS15-DXS52-F8C-telomere.

Authors: L M Mulligan; H J Grover; V S Blanchette; A R Giles; D P Lillicrap; A Phillips; J J Holden; B N White
Journal: Am J Med Genet Date: 1987-03

2. Multilocus analysis of the fragile X syndrome.

Authors: W T Brown; A Gross; C Chan; E C Jenkins; J L Mandel; I Oberlé; B Arveiler; G Novelli; S Thibodeau; R Hagerman
Journal: Hum Genet Date: 1988-03 Impact factor: 4.132

3. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

4. Rapid isolation of eukaryotic DNA.

Authors: D D Bowtell
Journal: Anal Biochem Date: 1987-05-01 Impact factor: 3.365

5. A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

Authors: S Kenwrick; J Gitschier
Journal: Am J Hum Genet Date: 1989-12 Impact factor: 11.025

6. An X-linked recessive cardiomyopathy with abnormal mitochondria.

Authors: H B Neustein; P R Lurie; B Dahms; M Takahashi
Journal: Pediatrics Date: 1979-07 Impact factor: 7.124

7. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

Authors: P G Barth; H R Scholte; J A Berden; J M Van der Klei-Van Moorsel; I E Luyt-Houwen; E T Van 't Veer-Korthof; J J Van der Harten; M A Sobotka-Plojhar
Journal: J Neurol Sci Date: 1983-12 Impact factor: 3.181

8. Strategies for multilocus linkage analysis in humans.

Authors: G M Lathrop; J M Lalouel; C Julier; J Ott
Journal: Proc Natl Acad Sci U S A Date: 1984-06 Impact factor: 11.205

9. Endocardial fibroelastosis: possible X linked inheritance.

Authors: S Hodgson; A Child; M Dyson
Journal: J Med Genet Date: 1987-04 Impact factor: 6.318

10. Physical mapping studies on the human X chromosome in the region Xq27-Xqter.

Authors: M Patterson; C Schwartz; M Bell; S Sauer; M Hofker; B Trask; G van den Engh; K E Davies
Journal: Genomics Date: 1987-12 Impact factor: 5.736

46 in total

Review 1. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.

Authors: J Schönberger; C E Seidman
Journal: Am J Hum Genet Date: 2001-07-06 Impact factor: 11.025

2. Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Authors: J Johnston; R I Kelley; A Feigenbaum; G F Cox; G S Iyer; V L Funanage; R Proujansky
Journal: Am J Hum Genet Date: 1997-11 Impact factor: 11.025

3. Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency.

Authors: Meghan S Soustek; Darin J Falk; Cathryn S Mah; Matthew J Toth; Michael Schlame; Alfred S Lewin; Barry J Byrne
Journal: Hum Gene Ther Date: 2011-05-19 Impact factor: 5.695

Review 4. Dilated cardiomyopathy.

Authors: M Burch; M Runciman
Journal: Arch Dis Child Date: 1996-06 Impact factor: 3.791