Mitrakos Anastasios, Lazaros Leandros, Pantou Amelia, Mavrou Ariadni, Kanavakis Emmanuel, Tzetis Maria
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics & Research, Athens, Greece.
Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Mol Syndromol. 2020 Jul;11(3):141-145. doi: 10.1159/000508563. Epub 2020 Jun 13.
Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. High-resolution chromosomal microarray analysis identified a 428-kb deletion in chromosome 19 which included the gene. We conclude that haploinsufficiency of may be a valid pathophysiological mechanism leading to milder Coffin-Siris syndrome phenotypes.
科芬-西里斯综合征4型是一种常染色体显性先天性畸形综合征，由该基因的杂合突变引起，其主要特征为智力残疾、发育迟缓、行为异常以及第五指指甲发育不全或缺失和第五指远端指骨发育不全。在此，我们报告一名发育迟缓、中度智力残疾和双侧感音神经性听力损失的年轻女性，她被转诊进行基因检测。高分辨率染色体微阵列分析在19号染色体上鉴定出一个428 kb的缺失，其中包括该基因。我们得出结论，该基因的单倍剂量不足可能是导致较轻的科芬-西里斯综合征表型的一种有效的病理生理机制。
