PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

Human Mutation

Volumn 16, Issue 5, 2000, Pages 395-400

  Bjursell, Cecilia ^a   Erlandson, Anna ^a   Nordling, Margareta ^a   Nilsson, Staffan ^b   Wahlström, Jan ^a   Stibler, Helena ^c   Kristiansson, Bengt ^a   Martinsson, Tommy ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b CHALMERS UNIVERSITY OF TECHNOLOGY   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CDG IA; Mutation screening; PMM2; Prenatal diagnosis

Indexed keywords

CARBOHYDRATE; GENE PRODUCT; GLYCOPROTEIN; PHOSPHOMANNOMUTASE; PROTEIN PMM2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; GENE LOCATION; GENE MUTATION; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCANDINAVIA; SEQUENCE ANALYSIS;

ALLELES; AMINO ACID SUBSTITUTION; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); SCANDINAVIA;

EID: 0033744936     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T     Document Type: Article

References (11)

1. Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): Linkage disequilibrium and founder effect in Scandinavian families
2. Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families
3. Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
4. Carbohydrate-deficient Glycoprotein syndromes
5. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement
6. The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?
7. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
8. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1
9. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
10. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
11. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type IA