Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
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DOI：
10.1016/j.jpeds.2004.07.041
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发表时间：
2004-12
期刊：
影响因子：
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通讯作者：
J. Visootsak;B. Rosner;E. Dykens;C. Schwartz;Kimberly Hahn;S. White;R. Szeftel;J. Graham
中科院分区：
文献类型：
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作者：
J. Visootsak;B. Rosner;E. Dykens;C. Schwartz;Kimberly Hahn;S. White;R. Szeftel;J. Graham
目的描述来自 2 个患有 Borjeson-Forssman-Lehmann 综合征 (BFLS) 且 PHF6 锌指转录因子基因错义突变的 10 名男性的临床和行为特征。研究设计通过使用标准化问卷，将 BFLS 行为特征与其他年龄匹配的患有其他综合征和类似智力功能的男性进行比较：儿童行为检查表、瓦恩兰适应性行为 量表和赖斯性格概况。参与者包括 10 名 BFLS、10 名 Prader-Willi 综合征和 23 名 Klinefelter 综合征变体（13 名 48,XXYY，4 名 48,XXXY，6 名 49,XXXXY）。 结果与最初报告相反，我们的 BFLS 男性没有小头畸形、癫痫发作或身材矮小。他们的特征是眼睛深陷、耳朵大、五官粗糙、外生殖器小、男性乳房发育和肥胖。 A家庭患有轻度至中度智力障碍，而B家庭则受到更严重的影响。在瓦恩兰适应性行为量表上，患有 BFLS 的男性的日常生活和社交技能高于沟通技能。患有 BFLS 的男性也比患有普瑞德威利综合征或克兰费尔特综合征变异的男性具有较低的内化和外化症状，并且显得更社交和乐于助人。结论来自 2 个 PHF6 基因突变家庭的 BFLS 男性表现出独特的临床特征和适应不良行为的低风险。
OBJECTIVETo 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.STUDY DESIGNBFLS 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).RESULTSContrary 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.CONCLUSIONSMen with BFLS from 2 families with mutations in the PHF6 gene manifested distinctive clinical features and a low risk for maladaptive behaviors.