Al Tuwaijri Abeer, Alfadhel Majid
King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Associate Professor at King Saud bin Abdulaziz University for Health Sciences, Head of Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, PO Box 22490, Riyadh 11426, Saudi Arabia.
J Pediatr Endocrinol Metab. 2019 Apr 24;32(4):409-413. doi: 10.1515/jpem-2018-0505.
Background Obesity has become one of the greatest health risks worldwide. Recently, there was an explosion of information regarding the role of the central nervous system (CNS) in the development of monogenic and syndromic obesity. Case presentation Over the last decade, terminal and interstitial submicroscopic deletions of copy number variants (CNVs) in 2p25.3 and single nucleotide variants (SNVs) in myelin transcription factor 1 like (MYT1L) were detected by genome-wide array analysis and whole exome sequencing (WES) in patients with a nonspecific clinical phenotype that commonly includes intellectual disability (ID), early onset of obesity and speech delay. Here, we report the first Saudi female patient with mild to moderate ID, early onset of obesity and speech delay associated with a de novo pathogenic SNV in the MYT1L gene (c. 1585G>A [Gly529Arg]), which causes an amino acid change from Gly to Arg at position 529 that leads to mental retardation, autosomal dominant 39.
背景 肥胖已成为全球最大的健康风险之一。最近，关于中枢神经系统（CNS）在单基因和综合征性肥胖发生发展中的作用，相关信息大量涌现。病例报告 在过去十年中，通过全基因组阵列分析和全外显子组测序（WES），在具有非特异性临床表型（通常包括智力残疾（ID）、肥胖早发和语言发育迟缓）的患者中，检测到2p25.3区域拷贝数变异（CNV）的末端和间质性亚显微缺失以及髓鞘转录因子1样（MYT1L）基因的单核苷酸变异（SNV）。在此，我们报告首例沙特女性患者，其患有轻度至中度ID、肥胖早发和语言发育迟缓，与MYT1L基因中的一个新生致病性SNV（c. 1585G>A [Gly529Arg]）相关，该变异导致第529位氨基酸由甘氨酸变为精氨酸，进而导致智力迟钝，常染色体显性遗传39。
