Visootsak Jeannie, Rosner Beth, Dykens Elisabeth, Schwartz Charles, Hahn Kimberly, White Susan M, Szeftel Roxy, Graham John M
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
J Pediatr. 2004 Dec;145(6):819-25. doi: 10.1016/j.jpeds.2004.07.041.
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.
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).
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.
Men with BFLS from 2 families with mutations in the PHF6 gene manifested distinctive clinical features and a low risk for maladaptive behaviors.
描述来自2个家庭的10名患有博耶森-福斯曼-莱曼综合征（BFLS）且PHF6锌指转录因子基因存在错义突变的男性的临床和行为特征。
通过使用标准化问卷（儿童行为检查表、文兰适应行为量表和赖斯人格剖面图），将BFLS的行为特征与其他年龄匹配、患有其他综合征且智力功能相似的男性进行比较。参与者包括10名患有BFLS的男性、10名患有普拉德-威利综合征的男性以及23名患有克兰费尔特综合征变体的男性（13名48,XXYY、4名48,XXXY和6名49,XXXXY）。
与最初的报告相反，我们研究中的患有BFLS的男性没有小头畸形、癫痫发作或身材矮小。他们表现出深陷的眼睛、大耳朵、面部特征粗糙、外生殖器小、男性乳房发育和肥胖。A家族有轻度至中度智力障碍，而B家族受影响更严重。在文兰适应行为量表上，患有BFLS的男性在日常生活和社交技能方面比沟通技能方面得分更高。与患有普拉德-威利综合征或克兰费尔特综合征变体的男性相比，患有BFLS的男性的内化和外化症状也更低，并且表现得更善于社交和乐于助人。
来自2个家庭且PHF6基因发生突变的患有BFLS的男性表现出独特的临床特征和适应不良行为的低风险。
