A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
复制标题
具有 Borjeson-Forssman-Lehmann 综合征扩展表型的女性中 PHF6 的新型无义突变
DOI：
10.4274/jcrpe.galenos.2019.2018.0220
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发表时间：
2019-12-01
影响因子：
1.9
通讯作者：
Yu, Yongguo
中科院分区：
文献类型：
--
作者：
Zhang, Xia;Fan, Yanjie;Yu, Yongguo
Borjeson-Forssman-Lehmann综合征（BFLS）是一种由PHF 6突变引起的罕见X连锁疾病。典型的BFLS与智力残疾（ID）、发育迟缓（DD）、肥胖、癫痫、典型面部特征和手指和脚趾异常有关。这种情况下的内分泌表型和治疗结果仍有待描述。在这里，我们报告一个病人谁表现出完全生长激素缺乏谁回应激素治疗，但有不良反应。马蹄肾存在于这个病人，这也是不典型的BFLS。在该患者中鉴定出PHF 6基因的杂合无义突变c.673C>T（p.R225X），其遗传自其未患病的母亲。病人和她的母亲都表现出高度偏斜的X染色体失活。我们回顾了所有报告的BFLS病例的表型，并总结了他们的内分泌表现。这是第一份亚洲BFLS患者的报告，进一步描述了该综合征的遗传和表型谱。患者所经历的不良反应提示在这种情况下使用生长激素治疗时应谨慎。
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS has been associated with intellectual disability (ID), developmental delay (DD), obesity, epilepsy, typical facial features and anomalies of fingers and toes. Endocrinological phenotypes and outcome of treatment in this condition remain to be delineated. Here we report a patient who exhibited complete growth hormone deficiency who responded to hormonal treatment but with adverse effects. Horseshoe kidney was present in this patient, which is also atypical in BFLS. A heterozygous nonsense mutation c.673C>T (p.R225X) of PHF6 gene was identified in the patient, inherited from her unaffected mother. Both the patient and her mother showed highly skewed X-inactivation. We reviewed the phenotypes of all reported BFLS cases, and summarized their endocrine presentations. This first report of an Asian patient with BFLS further delineated the genetic and phenotypic spectrum of the syndrome. The adverse effect experienced by the patient suggests caution in the use of growth hormone treatment in this condition.