Xin Li1, Qing Cheng1, Niu Li2, Guoying Chang1, Yu Ding1, Juan Li1, Yiping Shen3, Jian Wang2, Xiumin Wang1. 1. a Department of Endocrinology, Shanghai Children's Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , China. 2. b Department of Medical Genetics, Shanghai Children's Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , China. 3. c Department of Laboratory Medicine , Boston Children's Hospital , Boston , MA , USA.
Abstract
BACKGROUND: Short stature with optic atrophy and Pelger-Huet anomaly (SOPH; MIM 614800) syndrome is a genetic disease caused by mutation in the neuroblastoma amplified sequence (NBAS) gene. CASE REPORT: We present a 11-year-old Chinese boy with SOPH syndrome, growth hormone deficiency with a normal bone age. Gene sequencing in the patient revealed a novel compound heterozygous mutation of c.5752A > C (Thr1918Pro) and c.500_501delTT (Phe167Cysfs*7) in the NBAS gene. CONCLUSIONS: To our best knowledge, these novel mutations in the NBAS gene have not been reported. Normal bone age with growth hormone deficiency in this patient is different from the patients with SOPH syndrome that have been previously reported. These findings enrich the mutant spectrum of the NBAS gene and add our understanding of SOPH syndrome.
BACKGROUND: Short stature with optic atrophy and Pelger-Huet anomaly (SOPH; MIM 614800) syndrome is a genetic disease caused by mutation in the neuroblastoma amplified sequence (NBAS) gene. CASE REPORT: We present a 11-year-old Chinese boy with SOPH syndrome, growth hormone deficiency with a normal bone age. Gene sequencing in the patient revealed a novel compound heterozygous mutation of c.5752A > C (Thr1918Pro) and c.500_501delTT (Phe167Cysfs*7) in the NBAS gene. CONCLUSIONS: To our best knowledge, these novel mutations in the NBAS gene have not been reported. Normal bone age with growth hormone deficiency in this patient is different from the patients with SOPH syndrome that have been previously reported. These findings enrich the mutant spectrum of the NBAS gene and add our understanding of SOPH syndrome.
Authors: Christian Staufner; Bianca Peters; Matias Wagner; Seham Alameer; Ivo Barić; Pierre Broué; Derya Bulut; Joseph A Church; Ellen Crushell; Buket Dalgıç; Anibh M Das; Anke Dick; Nicola Dikow; Carlo Dionisi-Vici; Felix Distelmaier; Neslihan Ekşi Bozbulut; François Feillet; Emmanuel Gonzales; Nedim Hadzic; Fabian Hauck; Robert Hegarty; Maja Hempel; Theresia Herget; Christoph Klein; Vassiliki Konstantopoulou; Robert Kopajtich; Alice Kuster; Martin W Laass; Elke Lainka; Catherine Larson-Nath; Alexander Leibner; Eberhard Lurz; Johannes A Mayr; Patrick McKiernan; Karine Mention; Ute Moog; Neslihan Onenli Mungan; Korbinian M Riedhammer; René Santer; Irene Valenzuela Palafoll; Jerry Vockley; Dominik S Westphal; Arnaud Wiedemann; Saskia B Wortmann; Gaurav D Diwan; Robert B Russell; Holger Prokisch; Sven F Garbade; Stefan Kölker; Georg F Hoffmann; Dominic Lenz Journal: Genet Med Date: 2019-11-25 Impact factor: 8.822