First preimplantation genetic testing case for monogenic disease in Latvia

Dmitry Perminov; Ludmila Voložonoka; Liene Korņejeva; Evija Jokste-Pīmane; Arita Blumberga; Sandra Krasucka; Nellija Seimuškina; Irina Kovaļova; Violeta Fodina

doi:10.1080/09513590.2017.1404239

First preimplantation genetic testing case for monogenic disease in Latvia

Dmitry Perminov
, Ludmila Voložonoka
, Liene Korņejeva
, Evija Jokste-Pīmane
, Arita Blumberga
, Sandra Krasucka
, Nellija Seimuškina
, Irina Kovaļova
, Violeta Fodina

Rīga Stradiņš University

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

18 Downloads (Pure)

Abstract

Huntington’s disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.

Original language	English
Pages (from-to)	47-49
Number of pages	3
Journal	Gynecological Endocrinology
Volume	33
DOIs	https://doi.org/10.1080/09513590.2017.1404239
Publication status	Published - 22 Dec 2017

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords*

Huntington’s disease (HD)
linkage analysis
preimplantation genetic diagnosis (PGD)

Field of Science*

3.2 Clinical medicine
3.1 Basic medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.1080/09513590.2017.1404239

First preimplantation genetic testing caseFinal published version, 822 KBLicence: CC BY

Cite this

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abstract = "Huntington{\textquoteright}s disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.",

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year = "2017",

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doi = "10.1080/09513590.2017.1404239",

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T1 - First preimplantation genetic testing case for monogenic disease in Latvia

AU - Perminov, Dmitry

AU - Voložonoka, Ludmila

AU - Korņejeva, Liene

AU - Jokste-Pīmane, Evija

AU - Blumberga, Arita

AU - Krasucka, Sandra

AU - Seimuškina, Nellija

AU - Kovaļova, Irina

AU - Fodina, Violeta

PY - 2017/12/22

Y1 - 2017/12/22

N2 - Huntington’s disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.

AB - Huntington’s disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.

KW - Huntington’s disease (HD)

KW - linkage analysis

KW - preimplantation genetic diagnosis (PGD)

UR - https://www.scopus.com/pages/publications/85042404772

U2 - 10.1080/09513590.2017.1404239

DO - 10.1080/09513590.2017.1404239

M3 - Article

C2 - 29264979

AN - SCOPUS:85042404772

SN - 0951-3590

VL - 33

SP - 47

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JO - Gynecological Endocrinology

JF - Gynecological Endocrinology

ER -

First preimplantation genetic testing case for monogenic disease in Latvia

Abstract

UN SDGs

Keywords*

Field of Science*

Publication Type*

Access to Document

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