An X‐linked, Recessively Inherited Syndrome Characterized by Grave Mental Deficiency, Epilepsy, and Endocrine Disorder

Börjeson, Mats; Forssman, Hans; Lehmann, Orla

doi:10.1111/j.0954-6820.1962.tb04162.x

Cited by 120 publications

(54 citation statements)

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“…PHF6, located on the X chromosome, was first identified as the gene associated with human Börjeson-Forssman-Lehmann syndrome (OMIM 301900) (9,10), an X-linked mental retardation disorder characterized by moderate-to-severe mental disability, epilepsy, hypogonadism, and obesity (11,12). PHF6 was identified as a new X-linked tumor suppressor gene (13).…”

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confidence: 99%

Structural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) Complex

Zhang

et al. 2015

Journal of Biological Chemistry

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Background:The PHF6 gene is mutated in patients with Börjeson-Forssman-Lehmann syndrome, T-cell acute lymphoblastic leukemia, and acute myeloid leukemia. The PHF6 protein is a newly identified interactor with the NuRD complex. Results: The complex structure of the NoLS region of PHF6 bound to RBBP4 was solved. Conclusion: By interacting with the RBBP4 component, PHF6 associates with the NuRD complex. Significance: Association with the NuRD complex implicates a role for PHF6 in chromatin structure modulation and gene regulation.

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confidence: 99%

Structural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) Complex

Zhang

et al. 2015

Journal of Biological Chemistry

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“…The plant homeodomain (PHD) 3 finger 6 (PHF6) gene, located on Xq26-q27, was first discovered mutated in patients with the Börjeson-Forssman-Lehmann syndrome (BFLS, MIM 301900) (1,2). BFLS is an X-chromosome linked mental retardation disorder characterized by moderate to severe mental retardation, epilepsy, short stature, hypogonadism, hypometabolism, marked gynecomastia, truncal obesity, tapered fingers, narrow palpebral fissure, and large ears (3)(4)(5)(6)(7)(8).…”

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confidence: 99%

“…BFLS is an X-chromosome linked mental retardation disorder characterized by moderate to severe mental retardation, epilepsy, short stature, hypogonadism, hypometabolism, marked gynecomastia, truncal obesity, tapered fingers, narrow palpebral fissure, and large ears (3)(4)(5)(6)(7)(8). Various mutations affecting the coding region of PHF6 gene or the splicing of the transcript, including missense, truncation, and deletion mutations, have been linked to BFLS (1, 6, 9 -13).…”

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confidence: 99%

Structural and Functional Insights into the Human Börjeson-Forssman-Lehmann Syndrome-associated Protein PHF6

Ruan

et al. 2014

Journal of Biological Chemistry

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Background: PHF6 gene is mutated in BFLS and adult acute myeloid and T-cell acute lymphoblastic leukemias. Results: Crystal structure of the second extended PHD domain of PHF6 was solved. Conclusion: PHF6-ePHD2 is a novel structural module and binds dsDNA. Significance: PHF6 may function as a transcriptional repressor using its ePHD domains binding to DNA and recruiting NuRD complex through its NoLS region to regulate gene transcription.

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“…30 Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome (OMIM #301900), which is characterized by MR, epilepsy, hypogonadism, obesity and minor dimorphisms, such as long ears or wide palpebral fissures. 25,31 PHF6 is expressed in many adult organs mainly including brain, spleen, kidney and the epithelial component of teeth. The HPRT1 gene (OMIM *308000) encodes for an enzyme, which is important in the generation of purine nucleotides through the purine salvage pathway.…”

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confidence: 99%

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

et al. 2010

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Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes.

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An X‐linked, Recessively Inherited Syndrome Characterized by Grave Mental Deficiency, Epilepsy, and Endocrine Disorder

Cited by 120 publications

References 0 publications

Structural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) Complex

Structural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) Complex

Structural and Functional Insights into the Human Börjeson-Forssman-Lehmann Syndrome-associated Protein PHF6

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

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