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Mol Genet Genomic Med ; 9(10): e1809, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34519438

RESUMO

The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Histona Acetiltransferases/genética , Mutação , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Blefarofimose/diagnóstico , Blefarofimose/genética , Estudos de Coortes , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Fácies , Aconselhamento Genético , Loci Gênicos , Genótipo , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Rim/anormalidades , Masculino , Patela/anormalidades , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Escroto/anormalidades , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética
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