Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

Bashir, Rani A.; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S.; Innes, Allan M.; Care for Rare Canada Consortium; Ferreira, Patrick; Hasan, Shabih U.; Au, Ping‐Yee B.

doi:10.1002/ajmg.a.38355

Cited by 21Craniofacial Disorders and TreatmentsGenomics and Rare DiseasesFetal and Pediatric Neurological Disorders

Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

Bashir, Rani A., Dixit, Abhijit, Goedhart, Caitlin, Parboosingh, Jillian S., Innes, Allan M., Care for Rare Canada Consortium, Ferreira, Patrick, Hasan, Shabih U. +1 more·2017·American Journal of Medical Genetics Part A

DOI 10.1002/ajmg.a.38355

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Abstract

We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin‐Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially reported in two brothers in 1990, with a third patient reported in 2003. Our first patient was subsequently found through exome sequencing to have a de novo mutation in KAT6B, c.4572dupT, p.(Thr1525Tyrfs*16). The second patient was ascertained as possible LGS, but KAT6B mutation testing was pursued clinically after the identification of the KAT6B mutation in Patient 1, and identified a de novo mutation, c.4205_4206delCT, p.(Ser1402Cysfs*5). The phenotypic spectrum of KAT6B mutations has been expanding since identification of KAT6B mutations in genitopatellar syndrome (GPS) and Say Barber Biesecker Young Simpson (SBBYS) syndrome patients. We show that craniosynostosis, which has not been previously reported in association with KAT6B mutations, may be part of the genitopatellar/Say Barber Biesecker Young Simpson spectrum. These two patients also further demonstrate the overlapping phenotypes of genitopatellar and SBBYS syndromes recently observed by others. Furthermore, we propose that it is possible that one or more of the previous cases of LGS may have also been due to mutation in KAT6B, and that LGS may actually be a variant within the KAT6B spectrum and not a distinct clinical entity.

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Variants in genes such as FGFR2, TCF12, ERF, KAT6B, ACTB, SH3PXD2B, SALL1, IFT140, SON, CASK, FOXP2, EXTL3, and SOX6 have often been identified in patients with additional dysmorphic, skeletal, neurodevelopmental, or systemic disorders.
“More broadly, variants in genes such as FGFR2, TCF12, ERF, KAT6B, ACTB, SH3PXD2B, SALL1, IFT140, SON, CASK, FOXP2, EXTL3, and SOX6 have often been identified in patients with additional dysmorphic, skeletal, neurodevelopmental, or systemic disorders [41, 47–49, 78, 84, 86, 90, 100, 101, 108–110].”
From Genetics versus environment in the pathophysiology of sagittal synostosis (2026) · cites this paper as [47]

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Maglione, V., Pizzuti, A., Mastromoro, G., Cresta, E., Favata, P., Digilio, M. C., Capolino, R., Dentici, M. L., Sinibaldi, L., Novelli, A., et al. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64100 · Cited by 2 · see citing works
Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome
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A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders
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Authors: Bashir, R. A., Dixit, A., Goedhart, C., Parboosingh, J. S., Innes, A. M., Care for Rare Canada Consortium, Ferreira, P., Hasan, S. U., & Au, P. B.
Affiliations: University of Calgary (CA)
Nottingham University Hospitals NHS Trust (GB)
Corresponding author: Au, Ping‐Yee B.
ORCID: Bashir, Rani A.
Dixit, Abhijit
Innes, Allan M.
Ferreira, Patrick
Hasan, Shabih U.
Au, Ping‐Yee B.
Venue: American Journal of Medical Genetics Part A
Publisher: Wiley
Published: 2017-07-11
Volume: 173
Issue: 10
Pages: 2596-2604
ISSN: 1552-4825 (ISSN-L)
1552-4833
DOI: 10.1002/ajmg.a.38355
OpenAlex: W2736006237
Cited by: 21
References: 26
Citations by year: 2026: 1 · 2025: 4 · 2024: 2 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 4 · 2019: 1 · 2018: 4 · 2017: 2
FWCI: 2.00
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics Part A (publishedVersion)
PubMed (publishedVersion)
Funders: Genome Canada
Canadian Institutes of Health Research
Ontario Genomics Institute
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords: KAT6B, craniosynostosis, sagittal craniosynostosis, agenesis of the corpus callosum, de novo mutations, phenotypic spectrum, thyroid abnormalities, dysmorphic features, genotype-phenotype correlation
MeSH terms: Adult, Craniosynostoses, Humans, Infant, Infant, Newborn, Male, Mutation, Phenotype, Syndrome, Histone Acetyltransferases

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Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

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