DNA-based prenatal diagnosis of heritable skin diseases

Christiano, Angela M.

doi:10.1001/archderm.129.11.1455

Cited by 11 publications

(3 citation statements)

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“…Because of the life-threatening complications and significant long-term morbidity associated with the most severe forms of EB, there has been a demand for prenatal diagnosis from families who have previously had an affected child, particularly those with severe, mutilating RDEB (17). Until last year, fetal skin biopsy was the only method of prenatal diagnosis available to families at risk for recurrence of RDEB.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Christiano

LaForgia

Paller

et al. 1996

Mol Med

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Background: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic hallmark is abnormalities in the anchoring fibrils, attachment structures beneath the cutaneous basement membrane zone. The major component of anchoring fibrils is type VII collagen, and DEB has been linked to the type VII collagen gene (COL7A1) at 3p21, with no evidence for locus heterogeneity. Due to life-threatening complications and significant long-term morbidity associated with the severe, mutilating form of recessive dystrophic EB (RDEB), there has been a demand for prenatal diagnosis from families with affected offspring. Materials and Methods: Intragenic polymorphisms in COL7A1 and flanking microsatellite markers on chromosome 3p2 1, as well as detection of pathogenetic mutations in families, were used to perform PCR-based prenatal diagnosis from DNA obtained by chorionic villus sampling at 10-15 weeks or amniocentesis at 12-15 weeks gestation in 10 families at risk for recurrence of RDEB. Results: In nine cases, the fetus was predicted to be normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in nine cases by the birth of a healthy child. In one case, an affected fetus was predicted, and the diagnosis was confirmed by fetal skin biopsy. Conclusions: DNA-based prenatal diagnosis of RDEB offers an early, expedient method of testing which will largely replace the previously available invasive fetal skin biopsy at 18-20 weeks gestation.

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Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Christiano

LaForgia

Paller

et al. 1996

Mol Med

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“…Fetal skin biopsy is done between 18 and 20 weeks of gestation [35,36]. This is indicated for the detection of genodermatoses like epidermolysis bullosa, epidermolytic hyperkeratosis, harlequin ichthyosis and Sjogren-Larsson syndrome [37,38]. Another indication is oculo cutaneous albinism.…”

Section: Fetal Skin Biopsymentioning

confidence: 99%

Developmental Genetics and Preimplantation Genetic Diagnosis

Chakrabarti¹,

Sharma²

2018

Genetic Diversity and Disease Susceptibility

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The genetic code information programs the embryogenesis. In this chapter the three phases of prenatal development the pre-embryonic, the embryonic and the fetal are elaborated. The role played by transforming growth factor beta related genes in the growth and differentiation of early embryo will be described. The implications of Fibroblast growth factor gene in binding heparin its effect on cell survival and mitogenic pathways is discussed. The orchestrated symphony of Sonic Hedgehog genes in early human embryo development is elaborated. The Homeobox genes (Hox gene) and their role in early human embryogenesis are described. The different tests available for prenatal genetic testing are briefly described. Preimplantation genetic diagnostic procedures are indispensable in clinical embryology. The microsurgical techniques of the Polar body biopsy, Blastomere biopsy and Blastocyst biopsy are discussed at the end of the chapter. A diagrammatic representation of individuals and relationships in clinical genetics is described. A brief description of procedures of invasive fetal tests for collecting the fetal tissue is also discussed.

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“…In other cases, fetal skin biopsy is the only possible way to identify certain conditions, but earlier diagnosis using gene analysis is now becoming available. 57 , 58 …”

Section: Genetic Counseling and Prenatal Diagnosismentioning

confidence: 99%

Severe congenital ichthyosis of the neonate

Akiyama

1998

Int J Dermatology

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DNA-based prenatal diagnosis of heritable skin diseases

Cited by 11 publications

References 0 publications

Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Developmental Genetics and Preimplantation Genetic Diagnosis

Severe congenital ichthyosis of the neonate

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