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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Novel de novo Intronic
KAT6B
Variant in 9 ...
Novel de novo Intronic
KAT6B
Variant in 9-year-old Female Adds to the Wide Phenotypic Spectrum of
KAT6B
Disorders
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Pdf Summary
A 9-year-old female patient presented with a range of physical and developmental symptoms, including malar flattening, expressionless facies, up-slanting and small palpebral fissures, retrognathia, tubular nose, red keratosis, hypertelorism, esotropia, low-set and small ears, and skeletal differences such as proximally placed long thumbs and short 5th metacarpals, and shortened 5th metatarsals, long 3rd and 4th toes, shortened great toes, and significant pes planus. Whole exome sequencing revealed a novel de novo intronic variant in the KAT6B gene, which is associated with KAT6B disorders, including Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS). This variant was likely pathogenic and predicted to have a deleterious effect. It is worth noting that loss-of-function is a known mechanism of disease in the KAT6B gene. The patient did not exhibit gross motor delay but presented with classic SBBYSS facial features and psychiatric issues, including anxiety, ADHD, obsessive tendencies, defiant behaviors, and features suggestive of autism spectrum disorder. The patient also had a variant of uncertain significance (VUS) in the TRRAP gene inherited from the mother, which could contribute to her phenotype. TRRAP-related disorders have a variable phenotype and may include dysmorphic facies, developmental delay, congenital anomalies, visual and hearing abnormalities, microcephaly, and seizures. This case adds to the literature on intronic variants causing KAT6B disorders and expands the wide phenotypic spectrum associated with these disorders.
Asset Subtitle
Co-Author - Lingying Liu, CGC; Presenting Author - Paul R. Hillman, MD/PhD;
Meta Tag
Clinical History
Cognitive Disorders
Delineation of Diseases
Exome sequencing
Genotype-Phenotype Correlations
Musculoskeletal system
Phenotype
Phenotypic delineation of disorders
Co-Author
Lingying Liu, CGC
Presenting Author
Paul R. Hillman, MD/PhD
Keywords
9-year-old female patient
physical symptoms
developmental symptoms
KAT6B gene
KAT6B disorders
SBBYSS facial features
psychiatric issues
autism spectrum disorder
TRRAP gene
TRRAP-related disorders
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