A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome

Bellad, Anikha; Bandari, Aravind K.; Pandey, Akhilesh; Girimaji, Satish Chandra; Muthusamy, Babylakshmi

doi:10.1007/s12031-020-01560-5

Cited by 8 publications

(2 citation statements)

References 36 publications

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“…Structurally, PHF6 contains two atypical PHD domains, a motif common to many chromatin-regulatory proteins 3 , indicating that PHF6 might function as an epigenetic reader or effector of histone H3 tails. Interestingly, a previous study showed that PHF6 interacts with the NuRD complex and that this PHF6–NuRD complex is restricted to the nucleoplasm and is not present in the nucleolus 2 . In this study, the relationship between PHF6 and the epigenetic modification of histone methylation was explored by incubating PHF6 with synthetic histone H3 mimetic peptides that were non-, mono-, di-, or trimethylated at specific lysine residues and then analyzing their abilities to bind PHF6.…”

Section: Resultsmentioning

confidence: 97%

“…The plant homeodomain (PHD)-like finger protein 6 ( PHF6 ) gene that is located on the X chromosome was originally identified as the gene responsible for Borjeson-Forssman-Lehmann syndrome (BFLS) 1 , 2 , 3 , a hereditary neurodevelopmental disorder that presents with mental retardation and physical deformities 4 . To date, loss-of-function PHF6 mutations are not only identified in genetic diseases but also in many types of cancer, including T-cell acute lymphoblastic leukemia (T-ALL) 5 , acute myeloid leukemia (AML) 6 , chronic myeloid leukemia (CML) 7 , mixed-phenotype acute leukemia (MPAL) 8 , and hepatocellular carcinoma 9 .…”

Section: Introductionmentioning

confidence: 99%

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PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia

Tsai

Huang

et al. 2022

Acta Pharmaceutica Sinica B

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Section: Resultsmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia

Tsai

Huang

et al. 2022

Acta Pharmaceutica Sinica B

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Syndromic and Nonsyndromic Obesity: Underlying Genetic Causes in Humans

Duis

Butler

2022

Advanced Biology

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cardiovascular disease, hypertension, cancers, orthopedic problems, and reduced fertility.Genetic factors can be classified as monogenic or caused by variants of single genes, polygenic involving several interacting genes, or syndromes accompanying obesity and recognized phenotypes. Neurological dysfunction or abnormal regulation of energy utilization, expenditure or storage via hormone production, transport or receptors impact overall energy homeostasis. [1,2] Furthermore, heritability estimates indicate that genetic factors may contribute to up to 70% of obesity, primarily affecting genetic pathways common in lipid metabolism, fat deposition or lipid transport, eating behavior, food selection and hormones, physical activity or energy expenditure based on studies from monozygotic twins reared apart and living in a different environment. [3] Heritability estimates do increase from infancy through adolescence. Over 10 000 references in the medical literature were identified when searching for obesity genes and syndromes with approximately 80 recorded obesityrelated syndromes. [1][2][3][4][5] The prevalence estimates for monogenic obesity syndromes range from about one in 550 to aprroximately one in 1 million. [5] Clinical findings identified in genetic obesity syndromes often overlap, as found in at least 52 related obesity syndromes displaying some form of intellectual disability while seven syndromes present with macrocephaly and seven syndromes with microcephaly. [5] Obesity syndromes may exhibit complex patterns of inheritance including autosomal dominant (e.g., Alstrom), autosomal recessive (e.g., Carpenter), X-linked (e.g., Borjeson-Forssman-Lehmann), errors in genomic imprinting (e.g., Prader-Willi), triallelic inheritance (e.g., Bardet-Biedel) or chromosome anomalies (e.g., 16p11.2 deletion). Hormonal Pathways and Genetic RegulationHormones and their role in appetite control and weight regulation are now an active area of research with clinical trials often focusing on hyperphagia and overeating, common in rare obesity-related disorders such as Prader-Willi syndrome. [6] Eating hormones are becoming increasingly recognized as playing a role in the central nervous system (CNS), particularly regions Growing evidence supports syndromic and nonsyndromic causes of obesity, including genome-wide association studies, candidate gene analysis, advanced genetic technology using next-generation sequencing (NGS), and identification of copy number variants. Identification of susceptibility genes impacts mechanistic understanding and informs precision medicine. The cause of obesity is heterogeneous with complex biological processes playing a role by controlling peptides involved in regulating appetite and food intake, cellular energy, and metabolism. Evidence for heritability shows genetic components contributing to 40%-70% of obesity. Monogenic causes and obesity-related syndromes are discussed and illustrated as well as biological pathways, gene interactions, and factors contributing to the obesity phenotype. Over 550...

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Monogenic and Syndromic Causes of Obesity

Duis

Butler

2022

Management of Prader-Willi Syndrome

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A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome

Cited by 8 publications

References 36 publications

PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia

PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia

Syndromic and Nonsyndromic Obesity: Underlying Genetic Causes in Humans

Monogenic and Syndromic Causes of Obesity

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