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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Expanding the Phenotypic Description and Allelic H ...
Expanding the Phenotypic Description and Allelic Heterogeneity of the
KAT6B
-Related Disorder
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Pdf Summary
The document discusses the expanded understanding of the KAT6B-related syndrome, a genetic disorder caused by mutations in the KAT6B gene. Approximately 100 individuals with this syndrome have been described in about 19 publications. The individuals presented in this study contribute to the knowledge of the clinical manifestations and genetic variations observed in this syndrome.<br /><br />The study compares two individuals with different KAT6B mutations: one with a truncation variant and one with a deletion encompassing the KAT6B gene. The individual with the truncation variant has a relatively severe phenotype compared to the individual with the deletion.<br /><br />The researchers are actively seeking more individuals affected by KAT6B-related syndrome to include in their study. Characterizing more individuals with this syndrome will help broaden our understanding of the clinical variability of the condition, leading to better recognition and management of affected individuals.<br /><br />The KAT6B gene encodes an enzyme involved in histone acetylation. Individuals with monoallelic KAT6B variants exhibit a wide range of features, including intellectual disability, skeletal abnormalities, and facial dysmorphology. KAT6B-related disorders include Say-Barber-Biesecker-Young-Simpson syndrome and Genito-patellar syndrome. Most cases of KAT6B-related syndrome arise spontaneously (de novo).<br /><br />The document concludes with a comparison of the facial dysmorphology and developmental milestones of the two individuals presented in the study. However, these specific details are not summarized in the provided text.
Asset Subtitle
Presenting Author - Kadesh A. Daniels, BA; Co-Author - Sarah G. Board, MSc; Co-Author - Courtney Brown, MS; Co-Author - Dima Qu’d, MSc; Co-Author - Beverly Nelson, MD; Co-Author - Dong Li, PhD; Co-Author - Elizabeth J. Bhoj, MD, PhD; Co-Author - Brittany N. Simpson; Co-Author - Andrew K. Sobering, PhD;
Meta Tag
Congenital Anomaly
Intellectual disability
Malformation
Co-Author
Sarah G. Board, MSc
Co-Author
Courtney Brown, MS
Co-Author
Dima Qu’d, MSc
Co-Author
Beverly Nelson, MD
Co-Author
Dong Li, PhD
Co-Author
Elizabeth J. Bhoj, MD, PhD
Co-Author
Brittany N. Simpson
Co-Author
Andrew K. Sobering, PhD
Presenting Author
Kadesh A. Daniels, BA
Keywords
KAT6B-related syndrome
genetic disorder
KAT6B gene
mutations
clinical manifestations
genetic variations
truncation variant
deletion
phenotype
histone acetylation
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