Saturday, September 30, 2023
BestWooCommerceThemeBuilttoBoostSales-728x90

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families – European Journal of Human Genetics


  • Borjeson M, Forssman H, Lehmann O. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med Scand. 1962;171:13–21.

    CAS 
    PubMed 

    Google Scholar
     

  • Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, et al. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet. 2002;32:661–5.

    CAS 
    PubMed 

    Google Scholar
     

  • Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, et al. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet. 2004;65:226–32.

    CAS 
    PubMed 

    Google Scholar
     

  • Gécz J, Turner G, Nelson J, Partington M. The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). Eur J Hum Genet. 2006;14:1233–7.

    PubMed 

    Google Scholar
     

  • Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gécz J, et al. Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. J Med Genet. 2003;40:e50.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene. J Child Neurol. 2009;24:610–4.

    PubMed 

    Google Scholar
     

  • Crawford J, Lower KM, Hennekam RCM, Van Esch H, Mégarbané A, Lynch SA, et al. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J Med Genet. 2006;43:238–43.

    CAS 
    PubMed 

    Google Scholar
     

  • Berland S, Alme K, Brendehaug A, Houge G, Hovland R. PHF6 deletions may cause Borjeson-Forssman-Lehmann syndrome in females. Mol Syndromol. 2011;1:294–300.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, et al. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013;22:5121–35.

    CAS 
    PubMed 

    Google Scholar
     

  • Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, et al. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet. 2013;50:838–47.

    CAS 
    PubMed 

    Google Scholar
     

  • Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, et al. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014;166C:290–301.

    PubMed 

    Google Scholar
     

  • Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, et al. Distinct phenotype of PHF6 deletions in females. Eur J Med Genet. 2014;57:85–9.

    PubMed 

    Google Scholar
     

  • Zahir FR, Mwenifumbo JC, Chun H-JE, Lim EL, Van Karnebeek CDM, Couse M, et al. Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability. BMC Genom. 2017;18:403.


    Google Scholar
     

  • Kasper BS, Dörfler A, Di Donato N, Kasper EM, Wieczorek D, Hoyer J, et al. Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy Behav. 2017;69:104–9.

    PubMed 

    Google Scholar
     

  • Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, et al. Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clin Genet. 2022;102:182–90.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Todd MAM, Ivanochko D, Picketts DJ. PHF6 degrees of separation: the multifaceted roles of a chromatin adaptor protein. Genes. 2015;6:325–52.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434–43.


    Google Scholar
     

  • Liu Z, Li F, Zhang B, Li S, Wu J, Shi Y. 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. J Biol Chem. 2015;290:6630–8.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • McRae HM, Garnham AL, Hu Y, Witkowski MT, Corbett MA, Dixon MP, et al. PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia. Blood. 2019;133:1729–41.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Voss AK, Gamble R, Collin C, Shoubridge C, Corbett M, Gécz J, et al. Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity. Gene Expr Patterns. 2007;7:858–71.

    CAS 
    PubMed 

    Google Scholar
     

  • Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, et al. PHF6 mutations in T-cell acute lymphoblastic leukemia. Nat Genet. 2010;42:338–42.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, et al. Proteomics. Tissue-based map of the human proteome. Science. 2015;347:1260419.

    PubMed 

    Google Scholar
     

  • Carter MT, Picketts DJ, Hunter AG, Graham GE. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. Am J Med Genet A. 2009;149A:246–50.

    PubMed 

    Google Scholar
     

  • Firth HV, Wright CF. DDD study. The Deciphering Developmental Disorders (DDD) study. Dev Med Child Neurol. 2011;53:702–3.

    PubMed 

    Google Scholar
     

  • Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, et al. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. J Med Genet. 2004;41:778–83.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Ellard S, Baple EL, Callaway A, Berry I, Forrester N, Turnbull C, et al. ACGS best practice guidelines for variant classification in rare disease 2020. 2020. https://www.acgs.uk.com/media/11631/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf (Accessed 4 Jan 2023).

  • Li J, Shi L, Zhang K, Zhang Y, Hu S, Zhao T, et al. VarCards: an integrated genetic and clinical database for coding variants in the human genome. Nucleic Acids Res. 2018;46:D1039–48.

    CAS 
    PubMed 

    Google Scholar
     

  • Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, et al. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017;19:1040–8.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Chao MM, Todd MA, Kontny U, Neas K, Sullivan MJ, Hunter AG, et al. T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. Pediatr Blood Cancer. 2010;55:722–4.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Lower KM, Solders G, Bondeson M-L, Nelson J, Brun A, Crawford J, et al. 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. Eur J Hum Genet. 2004;12:787–9.

    CAS 
    PubMed 

    Google Scholar
     

  • Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C. Loss of PHF6 leads to aberrant development of human neuron-like cells. Sci Rep. 2020;10:19030.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27:277–85.

    PubMed 

    Google Scholar
     

  • Zhang X, Fan Y, Liu X, Zhu M-A, Sun Y, Yan H, et al. A novel nonsense mutation of PHF6 in a female with extended phenotypes of Borjeson-Forssman-Lehmann syndrome. J Clin Res Pediatr Endocrinol. 2019;11:419–25.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, et al. Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. J Pediatr Endocrinol Metab. 2003;16:1295–300.

    CAS 
    PubMed 

    Google Scholar
     

  • Ernst A, Le VQ, Højland AT, Pedersen IS, Sørensen TH, Bjerregaard LL, et al. The PHF6 mutation c.1A>G; pM1V causes Börjeson-Forsman-Lehmann syndrome in a family with four affected young boys. Mol Syndromol. 2015;6:181–6.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Zhang C, Mejia LA, Huang J, Valnegri P, Bennett EJ, Anckar J, et al. The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. Neuron. 2013;78:986–93.

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Todd MAM, Picketts DJ. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. J Proteome Res. 2012;11:4326–37.

    CAS 
    PubMed 

    Google Scholar
     

  • Franzoni E, Booker SA, Parthasarathy S, Rehfeld F, Grosser S, Srivatsa S, et al. miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6. Elife. 2015;4:e04263.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, et al. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet. 2001;9:5–12.

    CAS 
    PubMed 

    Google Scholar
     

  • Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, et al. 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet J Rare Dis. 2015;10:134.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Van Vlierberghe P, Patel J, Abdel-Wahab O, Lobry C, Hedvat CV, Balbin M, et al. PHF6 mutations in adult acute myeloid leukemia. Leukemia. 2011;25:130–4.

    PubMed 

    Google Scholar
     

  • Hajjari M, Salavaty A, Crea F, Kee, Shin Y. The potential role of PHF6 as an oncogene: a genotranscriptomic/proteomic meta-analysis. Tumour Biol. 2016;37:5317–25.

    CAS 
    PubMed 

    Google Scholar
     

  • Yoo NJ, Kim YR, Lee SH. Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma. Acta Oncol. 2012;51:107–11.

    CAS 
    PubMed 

    Google Scholar
     



  • Source link

    Related Articles

    Leave a Reply

    Stay Connected

    9FansLike
    4FollowersFollow
    0SubscribersSubscribe
    - Advertisement -spot_img

    Latest Articles

    %d bloggers like this: