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J Pediatr Genet 2023; 12(02): 167-170
DOI: 10.1055/s-0040-1721826
Case-Based Review

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

Davor Petrović
1   Department of Pediatrics, University Hospital of Split, Split, Croatia
2   University of Split School of Medicine, Split, Croatia
,
Vida Čulić
1   Department of Pediatrics, University Hospital of Split, Split, Croatia
,
Zofia Swinderek-Alsayed
3   Department of Pediatrics, Neuropediatrician, Certificated Vojta Therapist, Latakia, Syria
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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.

Keywords

Joubert syndrome - consanguineous family - AHI1 mutation

Informed Consent

Patient's parents provided the informed consent to the authors.


Supplementary Material



Publication History

Received: 27 September 2020

Accepted: 15 November 2020

Article published online:
06 January 2021

© 2021. Thieme. All rights reserved.

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