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

Ayvaz, Özge; Şafak, Hatirnaz; Ebru, Hatırnaz; Ünsal, Evrim; Bilge, Sinanoglu Ekin; Ozer, Leyla; Kemal, Kadı Ali; Baltacı, Volkan

doi:10.1007/s10815-012-9728-8

Cited by 9 publications

(4 citation statements)

References 27 publications

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“…In each case, the discovered pathogenic variants are rarely recurrent yet specific to individual families, sometimes novel. [18][19][20] Moreover, some other researches also focused on polymorphic markers within and flanking the genes responsible for other EB types, such as junctional epidermolysis bullosa. 21,22 Therefore, in EB, where mutation screening in preimplantation genetic diagnosis is not convenient and economical, an approach utilizing a straightforward analysis tool for a specific mutation is more applicable and practical.…”

Section: Discussionmentioning

confidence: 99%

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

S¹,

Van²,

Thao³

et al. 2021

TACG

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Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. Materials and Methods: A novel COL7A1 mutation was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation in the family and their in-vitro fertilization (IVF) embryos. Then, the PCR products were sequenced with Sanger sequencing to detect the alteration in the allele, and some embryos would go through NGS-based preimplantation screening for chromosomal abnormalities. Results: The established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus. Conclusion:The established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by COL7A1 mutations but wish to have healthy children.

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Section: Discussionmentioning

confidence: 99%

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

S¹,

Van²,

Thao³

et al. 2021

TACG

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“…(13) For this reason, the PGD associated with IVF/ICSI in a risk situation, seems to be the only way to avoid recurrence. (14) …”

Section: Discussionmentioning

confidence: 99%

“…(13) Por essa razão, o PGD, associado à FIV/ICSI, parece ser a única maneira de evitar a recorrência. (14) …”

Section: Discussionunclassified

Preimplantation genetic diagnosis for cystic fibrosis: a case report

Biazotti

Pinto

Albuquerque

et al. 2015

Einstein (São Paulo)

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Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby.

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“…From 2008 to 2012, the Pubmed search engine was searched for Pyloric Atresia Epidermolysis Bullosa Aplasia Cutis Syndrome; there were five publications; one of them was a book chapter and four were case reports reporting four cases of JEB-PA [1,[4][5][6][7].…”

Section: Discussionmentioning

confidence: 99%