Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STR...

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Detalles Bibliográficos
Autores principales: Shi, Lisong, Bai, Yan, Kharbutli, Yara, Oza, Andrea M., Amr, Sami S., Edelmann, Lisa, Mehta, Lakshmi, Scott, Stuart A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687617/
https://www.ncbi.nlm.nih.gov/pubmed/31218851
http://dx.doi.org/10.1002/mgg3.806
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author Shi, Lisong
Bai, Yan
Kharbutli, Yara
Oza, Andrea M.
Amr, Sami S.
Edelmann, Lisa
Mehta, Lakshmi
Scott, Stuart A.
author_facet Shi, Lisong
Bai, Yan
Kharbutli, Yara
Oza, Andrea M.
Amr, Sami S.
Edelmann, Lisa
Mehta, Lakshmi
Scott, Stuart A.
author_sort Shi, Lisong
collection PubMed
description Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STRC hearing loss gene was also affected. Therefore, we developed a novel allele‐specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from the STRC transcription start site.
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spelling pubmed-66876172019-08-14 Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints Shi, Lisong Bai, Yan Kharbutli, Yara Oza, Andrea M. Amr, Sami S. Edelmann, Lisa Mehta, Lakshmi Scott, Stuart A. Mol Genet Genomic Med Letter to the Editor Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboring STRC hearing loss gene was also affected. Therefore, we developed a novel allele‐specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from the STRC transcription start site. John Wiley and Sons Inc. 2019-06-19 /pmc/articles/PMC6687617/ /pubmed/31218851 http://dx.doi.org/10.1002/mgg3.806 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Shi, Lisong
Bai, Yan
Kharbutli, Yara
Oza, Andrea M.
Amr, Sami S.
Edelmann, Lisa
Mehta, Lakshmi
Scott, Stuart A.
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
title Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
title_full Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
title_fullStr Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
title_full_unstemmed Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
title_short Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
title_sort prenatal cytogenomic identification and molecular refinement of compound heterozygous strc deletion breakpoints
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687617/
https://www.ncbi.nlm.nih.gov/pubmed/31218851
http://dx.doi.org/10.1002/mgg3.806
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