Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Kabuki syndrome
infant
phenotype
unbiased genome-wide sequencing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
revised:
08
12
2022
received:
28
10
2022
accepted:
10
12
2022
pubmed:
19
1
2023
medline:
15
3
2023
entrez:
18
1
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36651673
doi: 10.1002/ajmg.a.63097
doi:
Substances chimiques
Histone Demethylases
EC 1.14.11.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
930-940Subventions
Organisme : NICHD NIH HHS
ID : U19 HD077693
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002550
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG009599
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 AG000949
Pays : United States
Informations de copyright
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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