Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing Article Swipe
Kristen Wigby
,
Monia Hammer
,
Mari Tokita
,
Priyanka Patel
,
Marilyn C. Jones
,
Austin Larson
,
Frances Velez Bartolomei
,
Natalie Dykzeul
,
Anne Slavotinek
,
Tiffany Yip
,
Sara Bandrés‐Ciga
,
Brittany Simpson
,
Kristen Suhrie
,
Suma P. Shankar
,
Regan Veith
,
Jennifer Bragg
,
Cynthia M. Powell
,
Stephen F. Kingsmore
,
David Dimmock
,
Jill L. Maron
,
Jonathan M. Davis
,
Miguel Del Campo
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63097
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63097
Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome‐wide sequencing performed during the initial hospitalization underwent retrospective review of medical records. Human phenotype ontology terms used in genomic analysis were aggregated and analyzed. Clinicians were surveyed regarding changes in management and other care changes. Fifteen infants met inclusion criteria. KS was not suspected prior to genomic sequencing. Variants were classified as Pathogenic ( n = 10) or Likely Pathogenic ( n = 5) by American College of Medical Genetics and Genomics Guidelines. Fourteen variants were de novo ( KMT2D , n = 12, KDM6A , n = 2). One infant inherited a likely pathogenic variant in KMT2D from an affected father. Frequent findings involved cardiovascular (14/15) and renal (7/15) systems, with palatal defects also identified (6/15). Three infants had non‐immune hydrops. No minor anomalies were universally documented; ear anomalies, micrognathia, redundant nuchal skin, and hypoplastic nails were common. Changes in management were reported in 14 infants. Early use of unbiased genome‐wide sequencing enabled a molecular diagnosis prior to clinical recognition including infants with atypical or rarely reported features of KS while also expanding the phenotypic spectrum of this rare disorder.
Related Topics
Concepts
Kabuki syndrome
Genomics
DNA sequencing
Medical genetics
Phenotype
Genomic sequencing
Medicine
Biology
Genetics
Genome
Pediatrics
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.63097
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63097
- OA Status
- hybrid
- Cited By
- 2
- References
- 26
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4317212586
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4317212586Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/ajmg.a.63097Digital Object Identifier
- Title
-
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencingWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-01-18Full publication date if available
- Authors
-
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara Bandrés‐Ciga, Brittany Simpson, Kristen Suhrie, Suma P. Shankar, Regan Veith, Jennifer Bragg, Cynthia M. Powell, Stephen F. Kingsmore, David Dimmock, Jill L. Maron, Jonathan M. Davis, Miguel Del CampoList of authors in order
- Landing page
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https://doi.org/10.1002/ajmg.a.63097Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63097Direct link to full text PDF
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63097Direct OA link when available
- Concepts
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Kabuki syndrome, Genomics, DNA sequencing, Medical genetics, Phenotype, Genomic sequencing, Medicine, Biology, Genetics, Genome, Pediatrics, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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2Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 1Per-year citation counts (last 5 years)
- References (count)
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26Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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