Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa

Abstract

PGH represents a major step forward in widening the scope and availability of preimplantation testing for serious mapped single-gene disorders. We have established a generic test that is suitable for the majority of couples at risk of HJEB.

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

“…Although the carrier frequency is higher than seen in other countries, there is still only a small recurrence risk in the offspring of healthy siblings and other family members. Molecular prenatal diagnosis 38 and preimplatation genetic diagnosis 39,40 therefore do not seem to be indicated. However, for the parents of an affected child, a 25% recurrence risk clearly justifies molecular diagnosis in any further pregnancies 41 …”

First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: Case study of a novel c.4505-4508insACTC mutation

“…Furthermore, CserhalmiFriedman PB et al performed PGD for Herlitz type of junctional epidermolysis bullosa and carried out mutation screening using heteroduplex analysis and direct sequencing of the PCR products [28]. Likewise, Fassihi H et al (2006; described an alternative approach of preimplantation genetic haplotyping (PGH) in which whole genome amplification followed by haplotyping of multiple polymorphic markers using standard DNA-based polymerase chain reaction (PCR) assays were carried out [29,30]. Pregnancy was achieved in the PGD cycle and a healthy child was born.…”

DNA‐based prenatal diagnosis of plectin‐deficient epidermolysis bullosa simplex associated with pyloric atresia

“…As the genes responsible for EB have been indentified, DNA‐based PND has been available for many lethal EB subtypes 2,3 . Recently, other techniques such as immunofluorescence analysis of villous trophoblasts, 4 preimplantation genetic analysis 5 , and preimplantation genetic haplotyping 6 have been described as useful for PND of EB.…”