Zhang Qiang, Chen Shaoke, Qin Zailong, Zheng Haiyang, Fan Xin
Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.
Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
Medicine (Baltimore). 2020 Apr;99(15):e19751. doi: 10.1097/MD.0000000000019751.
This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis.
A 4-year old boy from Guilin City, Guangxi Zhuang Autonomous Region, China, was referred to our clinic for clarification of his diagnosis because he showed moderate intellectual disability.
Two novel compound heterozygous mutations of THOC6, c.664T>C (p.Trp222Arg) and c.945+1 G>A were identified in this patient by whole exome sequencing. The two mutations were evaluated as pathogenic and likely pathogenic respectively according to the American College of Medical Genetics guidelines. This is the first case displaying the BBIS phenotype reported in the Chinese population. These two mutations have not been reported previously.
Symptomatic treatment and rehabilitation training for patients.
The genetic cause of the disease was identified. The family received scientific genetic counseling.
BBIS is a rare syndromic autosomal recessive disease with intellectual disability and it is normally difficult for clinicians to recognize it. Whole exome sequencing is an efficient way to identify the gene which causes a particular disease in patients.
本病例报告扩展了博利厄 - 博伊科特 - 英尼斯综合征（BBIS）的突变和表型谱，对于在进行基因诊断时基于突变的BBIS产前和产后筛查具有重要价值。
一名来自中国广西壮族自治区桂林市的4岁男孩因中度智力障碍被转诊至我院门诊以明确诊断。
通过全外显子组测序在该患者中鉴定出THOC6的两个新的复合杂合突变，即c.664T>C（p.Trp222Arg）和c.945+1 G>A。根据美国医学遗传学学会的指南，这两个突变分别被评估为致病和可能致病。这是中国人群中报道的首例表现出BBIS表型的病例。这两个突变此前尚未见报道。
对患者进行对症治疗和康复训练。
明确了疾病的遗传病因。该家庭接受了科学遗传咨询。
BBIS是一种罕见的伴有智力障碍的综合征性常染色体隐性疾病，临床医生通常难以识别。全外显子组测序是识别导致患者特定疾病基因的有效方法。
