Syndroom van Borjeson-Forssman-Lehmann

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Coderingen

OMIM

301900

Portaal

Geneeskunde

Het syndroom van Borjeson-Forssman-Lehmann is een zeldzame X-gebonden genetische afwijking. Er is een mutatie gevonden in het PHF-6-gen. De symptomen zijn ontwikkelingsachterstand, epilepsie, microcefalie (mindere ontwikkeling van de hersenen), hoekige gezichtskenmerken, lange oren, kleine lengte, obesitas (overgewicht), gynaecomastie (borstvorming), spits toelopende vingers en verkorte tenen. De baby's zijn vaak slap, hebben moeite met drinken, grote oren en kleine geslachtsdelen. Later ontwikkelen ze leerproblemen, normaal tot klein figuur, met centrale obesitas en gynaecomastie. Het hoofd is meestal normaal qua grootte, soms zelfs vergroot. Grote oren en kleine genitaliën blijven bestaan. In late adolescentie en bij volwassenen zijn er klassieke gezichtskenmerken.

Bronnen, noten en/of referenties

The clinical picture of the Borjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations. Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Clayton-Smith J, Kerr B, Schelley S, Hoyme HE, De Vries BBA, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M. Clin Genet 2004: 65: 226–232.
Ardinger, H. H.; Hanson, J. W.; Zellweger, H. U.: Borjeson-Forssman-Lehmann syndrome: further delineation in five cases. Am. J. Med. Genet. 19: 653-664, 1984.
Baar, H. S.; Galindo, J.: The Borjeson-Forssman-Lehmann syndrome. J. Ment. Defic. Res. 9: 125-130, 1965.
Borjeson, M.; Forssman, H.; Lehmann, O.: An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med. Scand. 171: 13-21, 1962.
Brun, A.; Borjeson, M.; Forssman, H.: An inherited syndrome with mental deficiency and endocrine disorder: a patho-anatomical study. J. Ment. Defic. Res. 18: 317-325, 1974.
Crawford, J.; Lower, K. M.; Hennekam, R. C. M.; Van Esch, H.; Megarbane, A.; Lynch, S. A.; Turner, G.; Gecz, J.: Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J. Med. Genet. 43: 238-243, 2006.
Dereymaeker, A. M.; Fryns, J. P.; Hoefnagels, M.; Heremans, G.; Marien, J.; van den Berghe, H.: The Borjeson-Forssman-Lehmann syndrome: a family study. Clin. Genet. 29: 317-320, 1986.
Flannery, D. B.; Piussan, C.; Wright, L. E.: Dermatoglyphics in Borjeson-Forssman-Lehmann syndrome. (Letter) Am. J. Med. Genet. 21: 401-404, 1985.
Gecz, J.; Baker, E.; Donnelly, A.; Ming, J. E.; McDonald-McGinn, D. M.; Spinner, N. B.; Zackai, E. H.; Sutherland, G. R.; Mulley, J. C.: Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Hum. Genet. 104: 56-63, 1999.
Gecz, J.; Turner, G.; Nelson, J.; Partington, M.: The Borjeson-Forssman-Lehman (sic) syndrome (BFLS, MIM #301900). Europ. J. Hum. Genet. 14: 1233-1237, 2006.
Kubota, T.; Oga, S.; Ohashi, H.; Iwamoto, Y.; Fukushima, Y.: Borjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation. Am. J. Med. Genet. 87: 258-261, 1999.
Lower, K. M.; Solders, G.; Bondeson, M.-L.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.: 1024C-T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family. (Letter) Europ. J. Hum. Genet. 12: 787-789, 2004.
Lower, K. M.; Turner, G.; Kerr, B. A.; Mathews, K. D.; Shaw, M. A.; Gedeon, A. K.; Schelley, S.; Hoyme, H. E.; White, S. M.; Delatycki, M. B.; Lampe, A. K.; Clayton-Smith, J.; et al: Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome. Nature Genet. 32: 661-665, 2002.
Mathews, K. D.; Ardinger, H. H.; Nishimura, D. Y.; Buetow, K. H.; Murray, J. C.; Bartley, J. A.: Linkage localization of Borjeson-Forssman-Lehmann syndrome. Am. J. Med. Genet. 34: 470-474, 1989.
Mathews, K. D.; Buetow, K.; Turner, G.; Mulley, J.: Borjeson-Forssman-Lehmann syndrome localization. (Letter) Am. J. Med. Genet. 34: 475 only, 1989.
Mulley, J. C.; Turner, G.; Gedeon, A.; Sutherland, G. R.; Rae, J.; Power, K.; Arthur, I.: Borjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. (Abstract) Cytogenet. Cell Genet. 51: 1049 only, 1989.
Robinson, L. K.; Jones, K. L.; Culler, F.; Nyhan, W. L.; Sakati, N.; Jones, K. L.: The Borjeson-Forssman-Lehmann syndrome. Am. J. Med. Genet. 15: 457-468, 1983.
Turner, G.; Gedeon, A.; Mulley, J.; Sutherland, G.; Rae, J.; Power, K.; Arthur, I.: Borjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. Am. J. Med. Genet. 34: 463-469, 1989.
Weber, F. T.; Frias, J. L.; Julius, R. L.; Felman, A. H.: Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. J. Med. Genet. 15: 63-66, 1978.