Multi‐locus pathogenic variation identified in a patient with craniosynostosis

Yoon, Jihoon G.; Yu, Jung Woo; Shim, Kyu Won; Kim, Yong Oock; Lee, Min Goo

doi:10.1002/ajmg.a.63521

American J of Med Genetics Pt A

2023

DOI: 10.1002/ajmg.a.63521

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Multi‐locus pathogenic variation identified in a patient with craniosynostosis

Jihoon G. Yoon,

Jung Woo Yu,

Kyu Won Shim

et al.

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2024

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Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

Yoon,

Yu,

Shim

et al. 2024

Clinical Genetics

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RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease‐gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype–phenotype relationships in the MAP4K4‐related disorder. This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM_001242559:c.569G>T, p.Gly190Val), revealed by trio exome sequencing, and located in the hotspot of the protein kinase domain. The patient exhibited various clinical features, including craniofacial dysmorphism, language delay, congenital heart defects, genitourinary anomalies, and sagittal craniosynostosis. Our study expands the phenotypic association of the MAP4K4‐related disorder to include syndromic craniosynostosis, thereby providing further insights into the role of the RAS/MAPK pathways in the development of premature fusion of calvarial sutures.

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Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

Yoon,

Yu,

Shim

et al. 2024

Clinical Genetics

Self Cite

View full text Add to dashboard Cite

show abstract

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Multi‐locus pathogenic variation identified in a patient with craniosynostosis

Cited by 1 publication

References 13 publications

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies

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