The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations

Clinical Genetics

Volumn 65, Issue 3, 2004, Pages 226-232

  Turner, G ^a   Lower, K M ^b,c   White, S M ^d   Delatycki, M ^d   Lampe, A K ^e   Wright, M ^e   Clayton Smith, J ^f   Kerr, B ^f   Schelley, S ^g   Hoyme, H E ^g   De Vries, B B A ^h   Kleefstra, T ^h   Grompe, M ⁱ   Cox, B ⁱ   Gecz, J ^b,c   Partington, Michael ^a,j  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f ST MARY S HOSPITAL   (United Kingdom)

^g STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^j NONE   (Australia)

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Author keywords

Big ears; B rjeson Forssman Lehmann syndrome; Gynecomastia; Hypotonia; PHF6 mutations; Skewed X inactivation; Syndromic X linked mental retardation

Indexed keywords

PROTEIN PHF6; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADOLESCENT; ADULT; AGING; ANAMNESIS; ARTICLE; BORJESON FORSSMAN LEHMANN SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT INHERITANCE; EAR MALFORMATION; EPILEPSY; FACE MALFORMATION; FAILURE TO THRIVE; FEMALE; FINGER MALFORMATION; GENE MUTATION; GENETIC VARIABILITY; GENITAL MALFORMATION; GYNECOMASTIA; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MACROCEPHALY; MALE; MICROCEPHALY; OBESITY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SHORT STATURE; TOE MALFORMATION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; FAILURE TO THRIVE; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MENTAL RETARDATION; MUSCLE HYPOTONIA; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 10744219685     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00215.x     Document Type: Article

References (6)

1. Börjeson M, Forssman H, Lehmann O. An X-linked recessively inherited syndrome characterised by grave mental deficiency, epilepsy and endocrine disorder. Acta Med Scand 1962: 171: 13-21.
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3. Mathews K, Ardinger H, Nishimura D, Buetow K, Murray J, Bartley J. Linkage localisation of Börjeson-Forssman-Lehmann syndrome. Am J Med Genet 1989: 34: 470-474.
4. Lower K, Turner G, Kerr B et al. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet 2002: 32: 661-665.
5. Robinson L, Jones K, Culler F, Nyhan W, Sakati N, Jones KL. The Börjeson-Forssman-Lehmann syndrome. Am J Med Genet 1983: 15: 457-468.
6. Petridou M, Kimiskidis V, Deligiannis K, Kazis A. Börjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. Clin Neurol Neurosurg 1997: 99: 148-150.