Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Department of Pediatrics and Rare Disorders, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Genes (Basel). 2021 Apr 19;12(4):594. doi: 10.3390/genes12040594.
Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the gene. We present three new patients with MCPH2 and compound heterozygous mutations in the gene. In all the cases, the parents were healthy and unrelated. All children were clinically diagnosed with congenital microcephaly and retardation of motor and speech development. Sequencing results in the presented patients revealed five new variants in the gene (c.4273C>T, c.1711_1712insTA, c.1777_1778delGA, c.1642+2T>G, c.194T>A) and one previously described in the German population (c.2864_2867delACAG). In two of the presented cases, variants in the , , and genes were also found with unknown effects on the course of the disease. Moreover, in the article we collected and compared the most common clinical symptoms, dysmorphic features, and changes in radiographic examinations of the brain observed in 120 patients with recessive primary microcephaly type 2 caused by mutations in the gene.
2 型先天性小头畸形（MCPH2）是一种以原发性小头畸形为特征的脑发育障碍，伴有或不伴有脑畸形。MCPH2 是由 基因突变引起的。我们报告了 3 例 MCPH2 患者，他们均携带 基因的复合杂合突变。所有病例的父母均健康且无亲缘关系。所有患儿均经临床诊断为先天性小头畸形和运动及言语发育迟缓。对所报告的患者进行测序，发现 基因中有 5 个新变异（c.4273C>T、c.1711_1712insTA、c.1777_1778delGA、c.1642+2T>G、c.194T>A）和一个先前在德国人群中报道的变异（c.2864_2867delACAG）。在其中 2 个病例中，还发现了 、 和 基因的变异，但这些变异对疾病的进程影响未知。此外，我们还收集并比较了 120 例由 基因突变引起的隐性 2 型原发性小头畸形患者的最常见临床症状、畸形特征和脑影像学检查变化。
