[P2-45] The clinical, biochemical and genetic studies on congenital disorders of glycosylation type 1a
Background: Congenital disorder of glycosylation type 1a is a rare autosomal recessive disease due to Phosphomannomutase (PMM) deficiency causing multisystem damage. To date, very few cases of CDG-Ia have been documented in Mainland China. Here, the clinical features, biochemical and gene diagnosis of 12 Chinese patients with CDG-Ia were studied. In addition, prenatal diagnosis for CDG-Ia was performed by genetic test.
Methods: 12 patients (7 girls and 5 boys) with CDG-Ia from 10 unrelated Chinese families were admitted at the age of 3 months to 12 years 7 months. Peripheral blood leukocytes protein were resolved by Dodecyl sulfate, sodium salt (SDS)-Polyacrylamide gel electrophoresis (SDS-PAGE). Protein glycosylation was measured using SYPRO Ruby or Pro-Q Emerald 300. High-throughput gene sequencing were performed for the genetic diagnosis. Amniocytes were extracted for PMM2 gene analysis of a fetus..
Results: 12 patients presented with varied clinical features. The protein glycosylation levels of all patients were significantly decreased. Two novel (c.640G>T and c.656A>T) mutations were found. Among the other 7 reported mutations, c.430T>C is likely a common mutation in the Chinese population. PMM2 gene sequencing of amniocytes from one pregnant mother suggested that the fetus was not affected by CDG-Ia.
Conclusions: The clinical study on 12 Chinese patients with CDG-Ia was carried out. Protein glycosylation measurement was successfully estabolished and applied in the biochemical diagnosis of CDG-Ia. 12 Chinese patients got genetic diagnosis. Two novel PMM2 mutations were identified. Prenatal diagnosis for a fetus with family history of CDG-Ia was successfully performed.
Methods: 12 patients (7 girls and 5 boys) with CDG-Ia from 10 unrelated Chinese families were admitted at the age of 3 months to 12 years 7 months. Peripheral blood leukocytes protein were resolved by Dodecyl sulfate, sodium salt (SDS)-Polyacrylamide gel electrophoresis (SDS-PAGE). Protein glycosylation was measured using SYPRO Ruby or Pro-Q Emerald 300. High-throughput gene sequencing were performed for the genetic diagnosis. Amniocytes were extracted for PMM2 gene analysis of a fetus..
Results: 12 patients presented with varied clinical features. The protein glycosylation levels of all patients were significantly decreased. Two novel (c.640G>T and c.656A>T) mutations were found. Among the other 7 reported mutations, c.430T>C is likely a common mutation in the Chinese population. PMM2 gene sequencing of amniocytes from one pregnant mother suggested that the fetus was not affected by CDG-Ia.
Conclusions: The clinical study on 12 Chinese patients with CDG-Ia was carried out. Protein glycosylation measurement was successfully estabolished and applied in the biochemical diagnosis of CDG-Ia. 12 Chinese patients got genetic diagnosis. Two novel PMM2 mutations were identified. Prenatal diagnosis for a fetus with family history of CDG-Ia was successfully performed.