Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta

Sharony, Reuven; Amiel, Aliza; Bouaron, N.; Kidron, Debora; Itzhaky, Dganit; Fejgin, Moshe D.

doi:10.1002/ajmg.a.20397

Cited by 6 publications

(14 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The amniotic AFP level of patient IV6 of family B was tested by radioimmunoassay using monoclonal antibodies and the electroimmunodiffusion (Rocket) method. 11 The sera of the mothers of the patients' detailed, during pregnancy, and the sera post delivery of the patients, were tested using the radioimmunoassay method. 11 The other members of the family were not tested.…”

Section: Methodsmentioning

confidence: 99%

“…11 The sera of the mothers of the patients' detailed, during pregnancy, and the sera post delivery of the patients, were tested using the radioimmunoassay method. 11 The other members of the family were not tested. Immunohistochemical staining of AFP performed on the placenta of patient IV6 of family B revealed multifocal positivity on both the maternal and fetal sides, whereas for the placenta of patient V6 of family A multifocal positivity was detected only on the fetal side.…”

Section: Methodsmentioning

confidence: 99%

“…Immunohistochemical staining of AFP performed on the placenta of patient IV6 of family B revealed multifocal positivity on both the maternal and fetal sides, whereas for the placenta of patient V6 of family A multifocal positivity was detected only on the fetal side. 11 The labor of patient IV6 of family B was induced at 34 weeks due to mild pre-eclampsia, the newborn weighed 1740 g and was normal. 11 Its placenta presented inflammatory sites and cellular infiltrates.…”

Section: Methodsmentioning

confidence: 99%

“…11 The labor of patient IV6 of family B was induced at 34 weeks due to mild pre-eclampsia, the newborn weighed 1740 g and was normal. 11 Its placenta presented inflammatory sites and cellular infiltrates. 11 Patient V6 of family A was born by normal vaginal delivery and was normal; however, signs of placenta inflammation in the placental membranes were noted and monosomy 16 was found in placenta cells of both patients described.…”

Section: Methodsmentioning

confidence: 99%

“…9 Nevertheless, only one report described two normal fetuses with undetected levels of AFP 10 and lately we described two cases in two unrelated Arab families. 11 The molecular explanation for the pathophysiology of such situation was not provided. Here we report the molecular basis of this condition for the Arab families.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Congenital deficiency of alpha feto-protein

2004

Self Cite

View full text Add to dashboard Cite

Alpha-fetoprotein (AFP) is the main fetus serum glycoprotein with a very low concentration in the adult. AFP deficiency is a rare phenomenon. We studied two families with congenital AFP deficiency and searched for mutations in the AFP gene. We identified one mutation of 2 base deletion in exon 8, in both families, that leads to the congenital deficiency of AFP. The mutation nt930-931delCT (T294fs25X) creates a frameshift after codon 294 that leads to a stop codon after 24 amino acids, thus truncating the normal length of AFP of 609 amino acids. All the affected children were found to be homozygous for the mutation as was one of the fathers. The affected individuals were asymptomatic and presented normal development. This first identification of a mutation in the AFP gene demonstrates for the first time that deficiency of AFP is compatible with human normal fetal development and further reproduction in males.

show abstract

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Congenital deficiency of alpha feto-protein

2004

Self Cite

View full text Add to dashboard Cite

show abstract

Maternal serum alpha-fetoprotein levels are normal in Fanconi anemia: Can it be a lack of postnatal inhibition ofAFPgene resulting in the elevation?

Aslan

Karabacak

Aslan

2016

Pediatr Blood Cancer

View full text Add to dashboard Cite

We investigated the feasibility of using serum alpha-fetoprotein (AFP) levels as a screening test for prenatal diagnosis of Fanconi anemia (FA). Serial measurements in maternal serum were recorded. Parents, both heterozygous for FA, had declined prenatal molecular testing. The infant was born with no somatic abnormalities, and FA was confirmed by postnatal molecular analysis. Maternal serum AFP levels during each trimester of pregnancy were normal indicating that these levels cannot be used as a screening test in prenatal diagnosis. Three-year follow-up after birth showed constantly elevated serum levels in the patient from the start, suggesting a lack of postnatal inhibition on AFP gene.

show abstract

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

et al. 2008

View full text Add to dashboard Cite

Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and bhCG serum concentrations are commonly used for screening Down syndrome. AFP deficiency is rare (estimated to be 1/105 000 newborns) and only one sequence alteration has previously been reported in the AFP gene. We report a new mutation in exon 5 of the AFP gene, leading to a total absence of AFP on 2nd-trimester maternal serum screening for Down syndrome, confirmed on the amniotic fluid. Despite this, fetal development and birth were normal. After PCR-amplification, the whole AFP gene was sequenced. The new mutation was a guanine to adenine transition in position 543 creating a premature stop codon in position 181. In order to search for eventual modifications of the amniotic fluid profile, proteins were separated by electrophoresis and compared with 10 normal amniotic fluids sampled at the same developmental age (18 weeks). In the amniotic fluid of our patient albumin rate was reduced whereas alpha1 and beta protein fractions were increased, suggesting that AFP deficiency may modify the distribution of protein fractions. This observation emphasizes the complex molecular mechanisms of compensation of serum protein deficiency. Studies on other families with AFP deficiency are necessary to confirm this observation.

show abstract

Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta

Cited by 6 publications

References 16 publications

Congenital deficiency of alpha feto-protein

Congenital deficiency of alpha feto-protein

Maternal serum alpha-fetoprotein levels are normal in Fanconi anemia: Can it be a lack of postnatal inhibition ofAFPgene resulting in the elevation?

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

Contact Info

Product

Resources

About