Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
OBJECTIVE
To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene.


METHODS
BFLS behavioral features were compared with other age-matched men with other syndromes and similar intellectual functioning through the use of standardized questionnaires: the Child Behavior Checklist, the Vineland Adaptive Behavior Scales, and the Reiss Personality Profile. Participants included 10 with BFLS, 10 with Prader-Willi syndrome, and 23 with Klinefelter syndrome variants (13 with 48,XXYY, 4 with 48,XXXY, and 6 with 49,XXXXY).


RESULTS
Contrary to initial reports, our men with BFLS had no microcephaly, seizures, or short stature. They manifested deep-set eyes with large ears, coarse facial features, small external genitalia, gynecomastia, and obesity. Family A had mild to moderate mental retardation, whereas family B was more severely affected. On Vineland Adaptive Behavior Scales, men with BFLS had higher daily living and social skills than communicative skills. Men with BFLS also had lower internalizing and externalizing symptoms and appeared more social and helpful than men with Prader-Willi syndrome or Klinefelter syndrome variant.


CONCLUSIONS
Men with BFLS from 2 families with mutations in the PHF6 gene manifested distinctive clinical features and a low risk for maladaptive behaviors.
Visootsak
Jeannie
J
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Rosner
Beth
B
Dykens
Elisabeth
E
Schwartz
Charles
C
Hahn
Kimberly
K
White
Susan M
SM
Szeftel
Roxy
R
Graham
John M
JM
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D001519:Behavior; D003142:Communication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007713:Klinefelter Syndrome / Q000145:classification / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010551:Personality; D011218:Prader-Willi Syndrome / Q000145:classification / Q000235:genetics; D012720:Severity of Illness Index; D013577:Syndrome; D016335:Zinc Fingers / Q000235:genetics