Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2023-06-01 DOI:10.1055/s-0040-1721826

Davor Petrović, Vida Čulić, Zofia Swinderek-Alsayed

引用次数: 0

Abstract

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*) AHI1 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.

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一个叙利亚近亲家庭的Joubert综合征三例及一个有趣的跨国合作案例。

Joubert综合征(JS)是一种罕见的先天性常染色体隐性遗传病，其特征是明显的大脑畸形、发育迟缓、眼运动失用症、呼吸异常，且具有高度的临床和遗传异质性。我们报告在叙利亚有三名父母是近亲的兄弟姐妹患有JS。其中两人具有相同的纯合子c.2172delA (p.Trp725Glyfs*) AHI1突变，第三人在产前通过磁共振成像诊断。这种致病变异是非常罕见的，在文献中只有少数病例被描述。跨国合作可能有利于来自卫生保健系统质量较低的不发达低收入国家的患者，特别是在罕见疾病的诊断方面。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.