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Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.

Author information

Affiliations

  • 1. Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.
      Authors
    • Starosta RT 1
    • Jensen N 1
    • Couteranis S 1
    • Slaugh R 1
    • Easterlin D 1
    • Tate V 1
    • Dickson P 1
    (7 authors)
  • 2. Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
      Authors
    • Sams EI 2
    • Valle K 2
    • Akinwe T 2
    • Turner TN 2
    • Milbrandt J 2
    (5 authors)
  • 3. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
      Authors
    • Hou YC 3
    (1 author)
  • 4. Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.
      Authors
    • Cole FS 4
    (1 author)

ORCIDs linked to this article

European Journal of Human Genetics : EJHG, 07 Jul 2024, 32(9):1095-1105
https://doi.org/10.1038/s41431-024-01667-y PMID: 38972963 

Free full text available after 01 Sep 2025

Abstract 

Using a new analytic method ("unique non-overlapping region" (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of individuals diagnosed with chromosome 9p deletion syndrome (9PMS) and defined critical genomic regions. We extracted phenotypic information from 48 individuals with 9PMS from medical records and used a guided interview with caregivers to clarify ambiguities. Using high-resolution whole-genome sequencing for breakpoint definition, we aligned deletions and drew virtual breakpoints to obtain UNORs associated with phenotypic characteristics. We next extracted genotype and phenotype data for 57 individuals identified from a systematic review of the 9PMS literature and analyzed these as above. Common phenotypic features included developmental delay/intellectual disability, dysmorphic features, hypotonia, genital defects in XY individuals, psychiatric diagnoses, chronic constipation, atopic disease, vision problems, autism spectrum disorder, gastroesophageal reflux disease, trigonocephaly, congenital heart disease, and neonatal hypoglycemia. Our approach confirmed previous literature reports of an association of FREM1 with trigonocephaly and suggested a possible modifier element for this phenotype. In conclusion, the UNOR approach delineated phenotypic characteristics for 9PMS and confirmed the critical role of FREM1 and a possible long-distance regulatory element in pathogenesis of trigonocephaly that will need to be replicated in future studies.

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Read article at publisher's site: https://doi.org/10.1038/s41431-024-01667-y

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