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

Artikel i vetenskaplig tidskrift
Författare Cecilia Bjursell
Anna Erlandson
Margareta Nordling
Staffan Nilsson
Jan Wahlström
Helena Stibler
Bengt Kristiansson
Tommy Martinsson
Publicerad i Human mutation
Volym 16
Nummer/häfte 5
Sidor 395-400
ISSN 1098-1004
Publiceringsår 2000
Publicerad vid Institutionen för matematik, Matematisk statistik
Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik
Sidor 395-400
Språk en
Länkar dx.doi.org/10.1002/1098-1004(200011...
Ämnesord Alleles, Amino Acid Substitution, genetics, Carbohydrate-Deficient Glycoprotein Syndrome, classification, enzymology, epidemiology, genetics, Exons, genetics, Female, Genotype, Humans, Male, Mutation, Missense, genetics, Phosphotransferases (Phosphomutases), genetics, Scandinavia, epidemiology
Ämneskategorier Medicin och Hälsovetenskap

Sammanfattning

Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease characterized clinically by severe involvement of the central and peripheral nervous system, and biochemically by complex defects in carbohydrate residues in a number of serum glycoproteins. CDG IA is caused by mutations in the PMM2 gene located in chromosome region 16p13. In this study, 61 CDG type IA patients (122 chromosomes) were screened for mutations in the PMM2 gene using a combination of SSCP and sequence analysis. More than 95% of the mutations could be detected. All of them were missense mutations. Mutations 422G>A and 357C>A were strikingly more common in the material and comprised 58% of mutations detected. Of the 20 mutations found, 10 were not reported previously. Seven mutations, e.g. 26G>A (five alleles) and 548T>C (seven alleles), were found only in Scandinavian families. The most common genotype was 357C>A/422G>A (36%). Three patients were homozygous, 357C>A/357C>A (two cases), and 548T>C/548T>C (one case). No patients homozygous for the most common mutation 422G>A were detected. The different mutations were clustered e.g., in that most were located in exon 5 (five) and exon 8 (six), while no mutation was detected in exon 2. When the frequencies of each mutation were included, exon 5 comprised 61% (65 chromosomes) of the mutations; in Scandinavian patients the frequency of these mutations was 72%. Thus, analysis of exon five in these patients enables both reliable and time-saving first screening in prenatal diagnostic cases. This could be followed by a second step of additional strategies for the detection of other mutations.

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