Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Lonardo, Fortunato; Lonardo, M.S.; Acquaviva, Fabio; Monica, Matteo Della; Scarano, Francesca; Scarano, Gioacchino

doi:10.1111/cge.13127

Cited by 21 publications

(34 citation statements)

References 38 publications

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“…This patient also had anal stenosis and gastro-oesophageal nerve impairment. Interestingly malrotation and duodenal rupture has been reported in KAT6B related disease 31 suggesting shared underlying mechanisms.…”

Section: Resultsmentioning

confidence: 94%

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy¹,

Goudie²,

Blair³

et al. 2019

Genetics in Medicine

135

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Purpose: Mutations in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A mutations has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported. Methods: We obtained data for patients with KAT6A mutations through three sources: treating clinicians, an online family survey distributed through social media and a literature review. Results: We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic mutations to include missense and splicing mutations. We functionally validated a pathogenic splice site mutation and identified a likely hot-spot location for de novo missense mutations. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies and gastrointestinal complications, genotype-phenotype correlations show that late-truncating mutations (exons 16-17) aare significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction. Conclusion: Our data expands the genotypic and phenotypic spectrum for individuals with genetic mutations in KAT6A and we outline appropriate clinical management.

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Section: Resultsmentioning

confidence: 94%

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy¹,

Goudie²,

Blair³

et al. 2019

Genetics in Medicine

135

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“…The KAT6B gene is located on chromosome 10q22.2, containing 20 exon and encoding lysine acetyltransferase 6B, as a part of the histone H3 acetyltransferase complex. KAT6B-related disorders are inherited in an autosomal dominant manner (12,13). The prevalence of SBBYSS and GTPTS is still not accurately known.…”

Section: Discussionmentioning

confidence: 99%

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Zhu

et al. 2020

Front. Pediatr.

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Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically overlapping syndromes caused by truncating sequence variants in the KAT6B (10q22.2) gene. We detected a de novo heterozygous variant within exon 16 of KAT6B (Chr10p: 76781966-76781967) in a 7-months-old female infant who showed symptoms of short stature, global developmental delay, blepharophimosis, and lacrimal duct anomalies highly consistent with SBBYSS. Following the clinical features, we analyzed the KAT6B gene using Next Generation Sequencing (NGS) techniques. Her parents didn't present the same genetic variant. The patient we reported here is mainly characterized by syndromic forms of short stature and developmental delay, which may contribute to the understanding of clinical genetics for KAT6B-associated disorders.

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“…The KAT6B gene located in the 10q22.2 region of DNA encodes lysine acetyltransferase 6B 134. GPS and SBBYSS share several clinical features, including genital and patellar anomalies, hypotonia, congenital heart defects, hearing impairment, and intellectual disability 34.…”

Section: Discussionmentioning

confidence: 99%

“…KAT6B is an epigenetic regulator, and its mutation causes GPS and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) 34. GPS and SBBYSS share several clinical features, including genital and patellar anomalies, hypotonia, congenital heart defects, hearing impairment, and intellectual disability 34. However, the two syndromes also show several features that differentiate one from the other.…”

Section: Discussionmentioning

confidence: 99%

“…Genital anomalies that are characteristic of GPS are not a significant feature of SBBYSS. Patients with GPS usually do not show facial anomalies unlike patients with SBBYSS (mash-like facies, blepharophimosis, and ptosis) 46. Mutations in the KAT6B gene causing GPS occur in the proximal segment of exon 18, whereas those causing SBBYSS appear to be clustered in exons 16–18 78…”

Section: Discussionmentioning

confidence: 99%

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Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

et al. 2019

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Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

Cited by 21 publications

References 38 publications

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

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