Evidence map›Paper›PMID 41137608›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms.

Steven Pastor, Oanh Tran, Ryan Lapointe, Arnold Z Olali, Douglas C Wallace, Bernice Morrow, Elaine H Zackai, Donna M McDonald-McGinn, Beverly S Emanuel

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Steven PastorDepartment of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA. Electronic address: pastors@email.chop.edu.
Oanh TranDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.
Ryan LapointeDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.
Arnold Z OlaliDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
Douglas C WallaceDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
Bernice MorrowAlbert Einstein College of Medicine, Bronx, NY.
Elaine H ZackaiDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Donna M McDonald-McGinnDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Beverly S EmanuelDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Funding

SUPPORT FOR THE ROSE F KENNEDY IDDRC P50P50HD105352 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI Julie Secombe · 2021 to 2026
$7.0M
Molecular Dissection of the 22q11.2 Deletion SyndromeR01GM125757 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 2018 to 2024
$3.1M
NICHD NIH HHS P50 HD105352NIGMS NIH HHS R01 GM125757
6 · The paper itself

Abstract

purposeThe genomic architecture of 22q11.2 deletion syndrome (22q11.2DS) has primarily been studied in White populations, despite evidence suggesting a lower prevalence in Black individuals. This study aims to improve our understanding of the population-specific organization of 22q11.2 genomic structures.

methodsOptical mapping data from 106 genomes, representing various Black and White individuals, were analyzed to assess the structure and variation of the 22q11.2 low copy repeats (LCR22s).

resultsExtensive variability in copy-number and orientation of LCR22 elements was observed between Black and White genomes. Several novel copy-number variants and haplotype configurations were identified, some being private or more prevalent within specific groups. Notably, copy-number variants diversity was particularly striking among Black genomes. Comparisons of Black and White families with de novo 22q11.2DS probands revealed unique nonallelic homologous recombination scenarios, with Black families exhibiting recombination patterns that are not previously observed.

conclusionPerhaps the unique and highly variable LCR22 haplotype configurations in Black individuals contribute to the lower observed prevalence of 22q11.2DS by inhibiting the likelihood of nonallelic homologous recombination, the mechanism that leads to the syndrome.

Indexed as

Black PeopleChromosome MappingChromosomes, Human, Pair 22DiGeorge SyndromeBlack or African AmericanDNA Copy Number VariationsGenome, HumanHaplotypesHumansWhite22qCopy-number variationMicrodeletionOptical mappingRepeats

Identifiers

PMID41137608
PMCPMC12645408

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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.