Evidence map›Paper›PMID 31218851›Full record

ArticleMolecular genetics & genomic medicine2019

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

Open access · goldAbstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 1 country.

Lisong ShiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
Yan BaiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
Yara KharbutliDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
Andrea M OzaLaboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, Massachusetts.
Sami S AmrLaboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, Massachusetts.
Lisa EdelmannDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
Lakshmi MehtaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.
Stuart A ScottDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.ORCID 0000-0001-5720-1864
Sema4 (United States) · USIcahn School of Medicine at Mount Sinai · USMass General Brigham · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 15Sequence DeletionAdultAllelesCalcium ChannelsChromosome BreakageFemaleGene DosageGenetic Predisposition to DiseaseHearing Loss, SensorineuralHeterozygoteHumansInfertility, MaleIntercellular Signaling Peptides and ProteinsMaleCalcium ChannelsCATSPER2 protein, humanIntercellular Signaling Peptides and ProteinsSeminal Plasma ProteinsSTRC protein, humanallele-specific PCRCATSPER2chromosomal microarraycopy number variationdeafness-infertility syndromeprenatal diagnosisSTRC

Identifiers

PMID31218851
PMCPMC6687617
OpenAlexW2952413522

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.