A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Xia Zhang,
Yanjie Fan,
Xiaomin Liu,
Ming-Ang Zhu,
Yu Sun,
Hui Yan,
Yunjuan He,
Xiantao Ye,
Xuefan Gu,
Yongguo Yu
Affiliations
Xia Zhang
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Yanjie Fan
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Xiaomin Liu
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Ming-Ang Zhu
Shanghai Jiaotong University School of Medicine, Pediatric Translational Medicine Institute, Shanghai Children’s Medical Center, The Laboratory of Pediatric Infectious Diseases, Shanghai, China
Yu Sun
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Hui Yan
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Yunjuan He
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Xiantao Ye
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Xuefan Gu
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
Yongguo Yu
Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China
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.
