Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation...

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Veröffentlicht in:	Journal of AAPOS 2018-06, Vol.22 (3), p.240-242
Hauptverfasser:	Kodsi, Sylvia R., Bristow, Sara L., Fox, Joyce E., Hershlag, Avner
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult cis-trans-Isomerases - genetics Consanguinity Female Fertilization in Vitro Genetic Predisposition to Disease - prevention & control Genetic Testing Guanylate Cyclase - genetics Humans Leber Congenital Amaurosis - genetics Leber Congenital Amaurosis - prevention & control Male Pedigree Preimplantation Diagnosis Prenatal Diagnosis Receptors, Cell Surface - genetics Young Adult
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Beschreibung
Zusammenfassung:	Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation in the GUCY2D gene.
ISSN:	1091-8531 1528-3933
DOI:	10.1016/j.jaapos.2017.12.007