Work

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome

Year: 2024

Type: article

Study design: Case Report

Abstract: Highlight•A novel missense variant of FGD1, p.C782R, was identified in two siblings with Aarskog-Scott syndrome.•The results of this study emphasize the importance of the FYVE domain as a mutational region of FGD1 in Aarskog-Scott syndrome.

Source: Clinical Pediatric Endocrinology

DOI: 10.1297/cpe.2023-0027

Authors: Ikuko Takahashi, Atsuko Noguchi, Daiki Kondo, Yoko Sato, Hisato Suzuki, Mamiko Yamada, Kenjiro Kosaki, Tsutomu Takahashi

Institutions: Akita University, Akita Kousei Medical Center, Hiraka General Hospital, Keio University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: Japan Agency for Medical Research and Development

Award: G8515657150

OpenAlex ID: W4391284032

FWCI: 0.604

Cites: 5

Cited by: 3

Related to: 10