What is it about?
Accurate diagnosis of genetic conditions in paediatric patients is crucial in order to identify associated medical risks and to guide parents’ reproductive decisions based on recurrence risks. Thus, delays strongly impact both patients and families, and are frequent when symptoms cannot point towards a specific diagnosis. Our study describes a new condition, caused by a pleiotropic gene usually leading to microcephaly, short stature, and bone abnormalities, where children have also overlapping traits with a group of diseases, the so-called ciliopathies.
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Photo by Sangharsh Lohakare on Unsplash
Why is it important?
As children with this new condition do not fit neither in the “microcephaly, short stature and bone anomalies” group nor in the ciliopathy group, their genetic diagnostic can take years. Shedding light on this new group of patients and their association to this specific gene will help to stop the diagnostic odyssey that some patients and families are experiencing.
Perspectives
I am proud of this collaboration between clinicians, geneticists and scientists that has brought a handful of patients out of diagnostic deadlock. We can only hope that other patients will be identified with this publication. In addition, we are taking a further step towards a better understanding of the pathophysiology of syndromes associated with minor splicing defects, a cellular process that is poorly known and under-studied. A good demonstration that the clinic helps basic research and vice versa.
Marion Delous
Centre de Recherche en Neuroscience de Lyon
Read the Original
This page is a summary of: Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish, Proceedings of the National Academy of Sciences, February 2023, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2102569120.
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