Park Hyojung, Kim Min-Sun, Kim Jiyeon, Jang Ja-Hyun, Choi Jong-Moon, Lee Sae-Mi, Cho Sung Yoon, Jin Dong-Kyu
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
GC Genome, Yongin, Republic of Korea.
Neuro Endocrinol Lett. 2021 Jan;41(6):285-289.
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit nail hypoplasia, congenital anomalies, and growth retardation. Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147_2148insAC in ARID1B which was predicted as a premature stop codon p. (Gln717Argfs*29). This is the second report of Coffin-Siris syndrome in Korea. Targeted gene panel sequencing can be used as an effective tool for the diagnosis of rare complex syndromes such as Coffin-Siris syndrome.
科芬-西里斯综合征（OMIM #135900）是一种常染色体显性遗传性疾病，其特征为畸形特征、先天性异常和发育迟缓。我们报告了一名患有科芬-西里斯综合征患者的临床和分子学发现。一名3岁6个月大的男孩表现出发育迟缓、独特的面部特征、多毛症、胼胝体部分发育不全、第五指指甲发育不全、先天性异常和生长发育迟缓。靶向基因panel测序在ARID1B基因中鉴定出一个新的杂合移码突变c.2147_2148insAC，该突变预测为一个过早的终止密码子p.（Gln717Argfs*29）。这是韩国关于科芬-西里斯综合征的第二篇报道。靶向基因panel测序可作为诊断诸如科芬-西里斯综合征等罕见复杂综合征的有效工具。
