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Article

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.

Scientific reports - 4 Oct 2024

Nakamura Akikazu, Nomura Shunsuke, Hara Shoko, Thamamongood Thiparpa, Maehara Taketoshi, Nariai Tadashi, Khairullah Shasha, Tan Kay Sin, Azuma Kenko, Chida-Nagai Ayako, Furutani Yoshiyuki, Hori Takahiro, Yamaguchi Koji, Kawamata Takakazu, Roder Constantin, Akagawa Hiroyuki

Abstract excerpt

Moyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders. We performed whole-exome sequencing (WES) in 13 patients with various genetic disorders who developed MMS. WES successfully revealed the genetic diagnoses of neurofibromatosis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39367156
DOI: 10.1038/s41598-024-72043-5
PMCID: PMC11452616

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