Literature DB >> 1707231

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

V M Pratt1, J A Trofatter, A Schinzel, S R Dlouhy, P M Conneally, M E Hodes.   

Abstract

A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1707231     DOI： 10.1002/ajmg.1320380129

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

1.  Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.

Authors:  W H Raskind; C A Williams; L D Hudson; T D Bird
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

2.  A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.

Authors:  M Mori; M Nishimura
Journal:  Mamm Genome       Date:  1997-06       Impact factor: 2.957

3.  Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

Authors:  D Pham-Dinh; J L Popot; O Boespflug-Tanguy; P Landrieu; J F Deleuze; J Boué; P Jollès; A Dautigny
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-01       Impact factor: 11.205

4.  Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.

Authors:  V M Pratt; J R Kiefer; J Lähdetie; J Schleutker; M E Hodes; S R Dlouhy
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

5.  Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

Authors:  S Strautnieks; P Rutland; R M Winter; M Baraitser; S Malcolm
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

Review 6.  The inherited leukodystrophies: a clinical overview.

Authors:  J Aicardi
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

7.  Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

Authors:  R Doll; M R Natowicz; R Schiffmann; F I Smith
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

8.  Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Authors:  O Boespflug-Tanguy; C Mimault; J Melki; A Cavagna; G Giraud; D Pham Dinh; B Dastugue; A Dautigny
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

9.  Tissue lipoproteins revisited: new proteolipid protein gene family members in elasmobranchs.

Authors:  M P Sinoway; K Kitagawa; L Fidler; R M Gould; D R Colman
Journal:  Neurochem Res       Date:  1994-08       Impact factor: 3.996

10.  Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Authors:  Ruoyu Duan; Haoran Ji; Huifang Yan; Junyu Wang; Yu Zhang; Qian Zhang; Dongxiao Li; Binbin Cao; Qiang Gu; Ye Wu; Yuwu Jiang; Ming Li; Jingmin Wang
Journal:  Orphanet J Rare Dis       Date:  2022-03-28       Impact factor: 4.123
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.