ArticleJournal of molecular neuroscience : MN2020
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
Article in Journal of molecular neuroscience : MN, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- From Etiology to Aesthetic Surgery: Mapping Knowledge Domains and Emerging Trends in Gynecomastia Research: 35-Year Bibliometric Analysis.Aesthetic plastic surgery · 2026Review
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- A comprehensive review of genetic causes of obesity.World journal of pediatrics : WJP · 2024Review
- BörjesonZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Genetics of Obesity in Humans: A Clinical Review.International journal of molecular sciences · 2022Review
- PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia.Acta pharmaceutica Sinica. B · 2022Article
- Loss of PHF6 leads to aberrant development of human neuron-like cells.Scientific reports · 2020Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Börjeson-Forssman-Lehman Syndrome (BFLS) is a rare X-linked recessive syndrome characterized by intellectual disability, developmental delay, obesity, epilepsy, swelling of the subcutaneous tissues of the face, large but not deformed ears, hypogonadism, and gynecomastia. Pathogenic mutations in PHD finger protein 6 (PHF6) have been reported to cause BFLS. In this study, we describe two male siblings with mild intellectual disability, global developmental delay, short stature, microcephaly, and nyctalopia. Whole exome sequencing of the affected siblings and the parents identified a missense variant (c.413C > G) in the PHF6 gene, which leads to alteration of a serine residue at position 138 to cysteine. This mutation is located in a highly conserved region. Sanger sequencing confirmed the segregation of this mutation in the family in an X-linked recessive fashion. Multiple mass spectrometry-based proteomic studies have reported phosphorylation at serine 138 that describes the possible role of serine 138 in signaling. This novel variant in PHF6 gene helped in establishing a diagnosis of BFLS.
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Registered trials
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