講演情報
[P19-11]PHF6遺伝子異常によるBorjeson-Forssman-Lehmann症候群の一例
○山中 暖日1, 二川 弘司1, 三山 佐保子2, 黒田 真帆1, 伊藤 志帆3, 福田 憲太郎1, 吉橋 博史1 (1.東京都立小児総合医療センター 臨床遺伝部 臨床遺伝科, 2.東京都立小児総合医療センター 神経内科, 3.東京都立小児総合医療センター 看護部)
【Introduction】Pathogenic variants in PHF6 (Xq26.2) is known to cause Borjeson-Forssman-Lehmann syndrome (BFLS: MIM#301900) characterized by developmental delay, dysmorphic facial features and hypogonadism. We report additionally the case of BFLS and add the detailed clinical description.【Patient】2-year-old boy. The pregnant was uncomplicated. He was born at 37 weeks of gestation and anthropometric value were within normal range. At the age of 1 year and 3 months, he was diagnosed with developmental delay and feeding dysfunction. In present, his height, weight and head circumference were 81.2cm (-0.4SD), 10.1kg (-1.0SD) and 48.0cm (-1.0SD), respectively. Dysmorphic features include coarse face, large ear, long nose, micrognathia and hypertrichosis. He did not have any visceral complication other than cryptorchidism. Coffin-Siris syndrome (CSS) was highly suggestive, but atypical. Clinical gene panel testing revealed pathogenic variant for PHF6 (c.2T＞C p.Met1Thr), and a diagnosis of BFLS was made.【Discussion】About 50 patients of BFLS have been reported.Most reported cases of BLFS had external genital hypoplasia and short stature, our patient did not have these features. There seemed to be the phenotypic variability for endocrinological complications.PHF6 interact chromatin remodeling complex. Some features of BLFS overlap with manifestations of other syndromes with similar etiologies. In BFLS with X-linked inheritance, the differentiation from these syndromes is important for genetic counseling.【Conclusion】Atypical CSS considers BFLS with different inherited manner.