Petrović Davor, Čulić Vida, Swinderek-Alsayed Zofia
Department of Pediatrics, University Hospital of Split, Split, Croatia.
University of Split School of Medicine, Split, Croatia.
J Pediatr Genet. 2021 Jan 6;12(2):167-170. doi: 10.1055/s-0040-1721826. eCollection 2023 Jun.
Joubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.
乔伯特综合征（JS）是一种罕见的先天性常染色体隐性疾病，其特征为独特的脑畸形、发育迟缓、眼球运动失用、呼吸异常以及高度的临床和遗传异质性。我们报告了叙利亚三例来自近亲父母的乔伯特综合征患者。其中两人具有相同的纯合子c.2172delA（p.Trp725Glyfs*）突变，第三人通过磁共振成像在产前被诊断出来。这种致病变异非常罕见，文献中仅在少数病例中有所描述。对于来自医疗保健系统质量低下的不发达低收入国家的患者，尤其是对于罕见病的诊断，跨国合作可能会有所帮助。
