Antenatal diagnosis of molybdenum cofactor deficiency

Gray, R. G. F.; Green, Anne; Basu, S. N.; Constantine, G.; Condie, R. G.; Dorche, C.; Vianey-Liaud, C.; Desjacques, P

doi:10.1016/0002-9378(90)90691-y

Cited by 22 publications

(14 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We could not identify a MOCS1 mutation in the individuals reported by Bonioli et al (1996) and Gray et al (1990). One patient homozygous for the MOCS1 B mutation 1523delAG has been described recently by Parini et al (1997).…”

Section: Discussioncontrasting

confidence: 48%

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

et al. 1998

Self Cite

View full text Add to dashboard Cite

Molybdenum cofactor (MoCo) deficiency is a rare and devastating disease resulting in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency. It is an autosomal recessive disease and no therapy is known. Most patients harbour MOCS1 mutations, which are found in both open reading frames of this unusual gene encoding the first two enzymes required in the MoCo biosynthesis pathway, MOCS1 A and MOCS1 B, in a single transcript. We describe genomic details as a prerequisite for comprehensive mutation analysis. In an initial cohort of 24 MoCo deficiency patients, we identified 13 different mutations on 34 chromosomes, with a mutation detection rate of 70%. Five mutations were observed in more than one patient and together accounted for two thirds of detected mutations. These comprise the most frequent mutation, R319Q, which is restricted to England, two Danish/German mutations (one missense and one splice site mutation), a missense mutation found in England and Germany, and a "Mediterranean" frameshift mutation. All patients with identified mutations are either homozygous or compound heterozygous for mutations in either of the two open reading frames corresponding to MOCS1 A and MOCS1 B, respectively. This observation suggests the existence of more than the two previously described complementation groups in MoCo biosynthesis.

show abstract

Section: Discussioncontrasting

confidence: 48%

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

et al. 1998

Self Cite

View full text Add to dashboard Cite

show abstract

“…In this study we have evaluated the effectiveness of assay of sulphite oxidase in chorionic villi for prenatal diagnosis of molybdenum cofactor deficiency. While these studies were in progress, a report appeared summarizing the first attempted diagnosis of this disease by CVS assay (Gray et al, 1990). In this case, the absence of sulphite oxidase activity in the chorionic villus sample was taken as suggestive evidence for an affected fetus, although a delay in transport of the sample that could have resulted in inactivation of sulphite oxidase and the absence of any reported values for sulphite oxidase in control chorionic villi made the diagnosis tentative.…”

Section: Ms Received 7291 Accepted 2491mentioning

confidence: 96%

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

Johnson

Rajagopalan

Lanman

et al. 1991

J of Inher Metab Disea

View full text Add to dashboard Cite

Molybdenum cofactor deficiency is characterized by the absence of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase, the three known enzymes in man that require the cofactor for their activity. Prenatal diagnosis of the deficiency may be performed by assay of sulphite oxidase activity in cultured amniocytes. However, the activity in amniocytes is low and large numbers of cells are required for reliable assessment. We show that sulphite oxidase is present at high levels in chorionic villi obtained at 10-14 weeks gestation and can be assayed directly in the biopsy sample without cell culture. This assay has been applied to two pregnancies at risk for molybdenum cofactor deficiency with successful diagnoses of an unaffected and an affected fetus.

show abstract

“…The disease can be diagnosed prenatally by assay of sulphite oxidase activity in cultured amniotic cells or chorionic villus biopsy [4,6,12]. Also of value is the analysis of S-sulphocysteine in amniotic fluid [12].…”

Section: Discussionmentioning

confidence: 99%