- PMID
- Gene Name
- Molecular Event
- Function in UC
- 8571933
- UBL4A
- mutation
- Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants. American journal of hematology, 1996 Jan [Go to PubMed]
- Molecular mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene and clinical manifestations of neonatal jaundice in 112 male and 50 female Chinese neonates with G6PD deficiency were studied. In the 112 males, the nucleotide (nt) 1376 (G-->T) mutation was the dominant type (50.0%), followed by nt 1388 (G-->A) (16.1%), nt 493 (A-->G) (8.0%), nt 1024 (C-->T) (6.2%), nt 95 (A-->G) (5.4%), nt 392 (G-->T) (1.8%), nt 487 (G-->A) (1.8%), nt 871 (G-->A) (0.9%), and nt 1360 (C-->T) (0.9%). The nt 871 variant has not been reported in Taiwan before. The occurrence rates for nt 1376, nt 1388, nt 493, nt 95, and nt 1024 mutations in the 50 females were 44.0%, 18.0%, 12.0%, 6.0%, and 6.0%, respectively. The type of G6PD mutation in 10 male and 7 female neonates has not been identified yet. Although G6PD deficient neonates had higher frequency of phototherapy than G6PD normal neonates in both sexes, a significant difference in the prevalence of hyperbilirubinemia (peak bilirubin > or = 15.0 mg/dl) between G6PD deficient and normal neonates was found only in males. Further analysis showed that duration of phototherapy was longer in G6PD deficient male neonates than in the control group, while the outcome of phototherapy was better in subjects with non-nt 1376 mutations than subjects with the nt 1376 mutation. Most (78.3%) of the 23 G6PD deficient neonates who subsequently suffered from neonatal hyperbilirubinemia carried the nt 1376 mutation. The results of this study indicate that the nucleotide substitution at 1376 is the most common and important mutation for G6PD deficiency in Chinese neonates in Taiwan.
- 11317924
- UBL4A
- mutation
- Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- [Glucose-6-phosphate dehydrogenase et neonatal jaundice]. Presse médicale (Paris, France : 1983), 2001 Mar 24 [Go to PubMed]
- Since 1986, quantification of G6PD activity has been a routine test for all babies born at the public maternity hospitals of Marseilles. The objective of our study was to determine the prevalence of G6PD deficiency in the population tested and to evaluate the relative risk of neonatal jaundice in newborns with G6PD deficiency.
Neonatal screening is performed on cord blood by spectrophotometric measurements of G6PD activity. A group of 7779 newborns was studied retrospectively. The occurrence of neonatal jaundice was evaluated in 85 children with G6PD deficiency and compared to 85 children with normal G6PD activity.
The incidence of G6PD deficiency in male newborns was found to be 2.1%. The relative risk for neonatal jaundice in the G6PD deficient population compared to the non-deficient population is estimated to be 2.6.
Neonatal jaundice with pathological hyperbilirubinemia develops more frequently in cases of G6PD deficiency. The early characterization of G6PD activity provides an etiological diagnosis for neonatal jaundice, as well as the opportunity to give the newborn's family information concerning hemolytic crisis prevention. - 754244
- UBL4A
- mutation
- Pathogenesis
- Method
- NA
- Summary
- ADD A NOTE
- [Can glucose-6-phosphate dehydrogenase deficiency alone explain neonatal jaundice]. Revue française de transfusion et immuno-hématol, 1978 Dec [Go to PubMed]
- Several authors have insisted on the role of a glucose 6-phosphate deshydrogenase (G6PD) deficiency in the occurrence of neonatal jaundice which can be severe, leading to exchange transfusion. Considering the fact that haemolysis, occuring in deficient patients, is most of the time induced, our aim was to search if a neonatal hyperbilirubinemia could be explained by the sole G6PD deficiency or by extra"
oxidant stres"
. Red blood cell G6PD activity of 289 newborn babies of African or Antillian origin was tested by a Tetrazolium linked method. 21 newborns were deficient. 8 female babies were heterozygous for G6PD deficiency. No neonatal jaundice was observed. With Bienzle and all., we can suppose that the"
environmen"
takes an important part in the incidence of neonatal jaundice among G6PD deficient newborn of African or Antillian origin. However as triggering factors could be ignored, we think compulsary to search a G6PD deficiency in every neonatal jaundice necessitating an exchange-transfusion.
3 pubmed articles have reported UBL4A mutation associated with Neonatal Jaundice.