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

Lisong Shi; Yan Bai; Yara Kharbutli; Andrea M. Oza; Sami S. Amr; Lisa Edelmann; Lakshmi Mehta; Stuart A. Scott

doi:10.1002/mgg3.806

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

Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott

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

5 Scopus citations

Abstract

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.

Original language	English
Article number	e806
Journal	Molecular genetics & genomic medicine
Volume	7
Issue number	8
DOIs	https://doi.org/10.1002/mgg3.806
State	Published - Aug 2019

Keywords

CATSPER2
STRC
allele-specific PCR
chromosomal microarray
copy number variation
deafness-infertility syndrome
prenatal diagnosis

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10.1002/mgg3.806

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title = "Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints",

abstract = "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.",

keywords = "CATSPER2, STRC, allele-specific PCR, chromosomal microarray, copy number variation, deafness-infertility syndrome, prenatal diagnosis",

author = "Lisong Shi and Yan Bai and Yara Kharbutli and Oza, {Andrea M.} and Amr, {Sami S.} and Lisa Edelmann and Lakshmi Mehta and Scott, {Stuart A.}",

note = "Publisher Copyright: {\textcopyright} 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.",

year = "2019",

month = aug,

doi = "10.1002/mgg3.806",

language = "English",

volume = "7",

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T1 - Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

AU - Shi, Lisong

AU - Bai, Yan

AU - Kharbutli, Yara

AU - Oza, Andrea M.

AU - Amr, Sami S.

AU - Edelmann, Lisa

AU - Mehta, Lakshmi

AU - Scott, Stuart A.

PY - 2019/8

Y1 - 2019/8

N2 - 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.

AB - 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.

KW - CATSPER2

KW - STRC

KW - allele-specific PCR

KW - chromosomal microarray

KW - copy number variation

KW - deafness-infertility syndrome

KW - prenatal diagnosis

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DO - 10.1002/mgg3.806

M3 - Letter

C2 - 31218851

AN - SCOPUS:85067698406

SN - 2324-9269

VL - 7

JO - Molecular genetics & genomic medicine

JF - Molecular genetics & genomic medicine

IS - 8

M1 - e806

ER -

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

Abstract

Keywords

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