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First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.
- Source :
-
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2017 Dec; Vol. 475, pp. 78-84. Date of Electronic Publication: 2017 Oct 14. - Publication Year :
- 2017
-
Abstract
- Background: To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD).<br />Methods: Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD.<br />Results: NGS data of the proband sample revealed that the size of the possible inverted fragment was over 42Mb, spanning from position 26, 814, 206 to position 69, 231, 915 on the X chromosome. The breakpoints were confirmed by Sanger sequencing. A total of 5 blastocyst embryos underwent trophectoderm biopsy. Two embryos were diagnosed as carriers and three were unaffected. Two unaffected blastocysts were transferred and a singleton pregnancy was achieved. Following confirmation by prenatal diagnosis, a healthy baby was delivered.<br />Conclusions: This is the first report of an XLHED family with inv(X). ED1 is disrupted by the X chromosome inversion in this XLHED family and embryos with the X chromosomal abnormality can be accurately identified by means of PGD.<br /> (Copyright © 2017. Published by Elsevier B.V.)
- Subjects :
- Adult
Base Sequence
Blastocyst cytology
Blastocyst metabolism
Chromosome Breakpoints
Ectodermal Dysplasia 1, Anhidrotic genetics
Ectodermal Dysplasia 1, Anhidrotic pathology
Embryo Implantation
Exons
Female
Fertilization in Vitro
Gene Expression
Genetic Markers
Haplotypes
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Karyotyping
Male
Microsatellite Repeats
Pedigree
Pregnancy
Chromosome Inversion
Chromosomes, Human, X chemistry
Ectodermal Dysplasia 1, Anhidrotic diagnosis
Ectodermal Dysplasia 1, Anhidrotic prevention & control
Ectodysplasins genetics
Preimplantation Diagnosis methods
Subjects
Details
- Language :
- English
- ISSN :
- 1873-3492
- Volume :
- 475
- Database :
- MEDLINE
- Journal :
- Clinica chimica acta; international journal of clinical chemistry
- Publication Type :
- Academic Journal
- Accession number :
- 29037841
- Full Text :
- https://doi.org/10.1016/j.cca.2017.10.010