Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

Suzuki, Yasuyuki; Zhang, Zhongyi; Shimozawa, Nobuyuki; Muro, Masami; Shono, Hiroshi; Toda, Shuji; Miyahara, Shinichi; Hashimoto, Takashi; Usuda, Nobuteru; Itô, Masayuki; Takashima, Sachio; Kondo, Naomi

doi:10.1007/s100380050131

Cited by 8 publications

(2 citation statements)

References 20 publications

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“…Our work also clearly highlights the advantages of characterising the molecular defects in patients with D-bifunctional protein deficiency, if there is any likelihood that their parents may seek prenatal diagnosis for this disorder. There has been one earlier report of prenatal diagnosis of bifunctional protein deficiency using reverse transcriptasepolymerase chain reaction (RT-PCR) analysis on cultured amniotic fluid cells (Suzuki et al, 1999), but this is the first report of prenatal diagnosis using genomic DNA obtained from uncultured amniotic fluid cells. Our molecular findings were subsequently confirmed by determining VLCFA levels in cultured amniocytes.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

et al. 2002

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Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D-bifunctional protein deficiency. Prior analysis of the D-bifunctional protein cDNA sequence from the propositus had shown that it was missing 22 bp. This was subsequently attributed to a point mutation in the intron 5 donor site (IVS5 + 1G>C) of the D-bifunctional protein gene. Consistent with parental consanguinity, the patient was shown to be homozygous for this mutation, which is associated with loss of a Hph 1 restriction site in the genomic sequence. Prenatal testing of the fetus using genomic DNA isolated from uncultured amniocytes indicated that both alleles of the D-bifunctional protein had the IVS5 + 1G>C substitution. The peroxisomal defect was later confirmed biochemically using cultured amniocytes, which were found to have elevated levels of very long chain fatty acids (VLCFA). This is the first report of prenatal diagnosis of D-bifunctional protein deficiency using molecular analysis of genomic DNA.

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Section: Discussionmentioning

confidence: 99%

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

et al. 2002

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“…Urine has been used with great clinical benefit as a source of reporter molecules for urine and nonurinary tract diseases (Blau et al, 1989;Bonn, 2004;Goldstein et al, 2004;Mangan, 2005). Urine-based tests are noninvasive and patient-friendly, and they can be used to monitor nonurinary tract site disorders such as diabetes and hypertension as well as other conditions, such as pregnancy (Suzuki et al, 1999;Goldstein et al, 2004;Mangan, 2005). Advances in molecular biomarker research and our previous findings that tumorderived DNA in the circulation can be detected in urine (Botezatu et al, 2000;Iwaki et al, 2004;Quek et al, 2004;Su et al, 2004aSu et al, , 2004bGrossman et al, 2005;Lin et al, 2011;Song et al, 2012;Jain et al, 2015;Hann et al, 2017) have provided the opportunity to use urine as the biological fluid of choice to detect cancer-related molecular markers present in the circulation.…”

Section: Introductionmentioning

confidence: 99%

Urine-Based Liquid Biopsy for Nonurological Cancers

Jain

Lin

Song

et al. 2019

Genetic Testing and Molecular Biomarkers

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The use of circulating cell-free DNA for detection of cancer genetics has been studied extensively. Liquid biopsy often refers to the use of blood as a minimally invasive source of body fluid for detecting circulating tumor DNA (ctDNA). However, urine collection, which is completely noninvasive, has been shown to also have great promise to serve as an alternate body fluid source for ctDNA. In this review article, we focus on the clinical utility of urine for genetic liquid biopsy of nonurological cancers. Conclusion: Although still in early stages as compared with blood-based liquid biopsy, recent studies have demonstrated the value of urine-based liquid biopsies for: nonurological cancer screening; early detection; monitoring for recurrence and metastasis; and therapeutic efficacy. Overall, the completely noninvasive and patient-friendly nature of the urine-based biopsy warrants further development and offers a promising alternative to blood-based biopsies.

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Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

Wanders¹

2015

Genetic Disorders and the Fetus

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Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

Cited by 8 publications

References 20 publications

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D‐bifunctional protein deficiency

Urine-Based Liquid Biopsy for Nonurological Cancers

Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

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