Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene

Summary: “En bloc” inheritance of point mutations in adjacent genes has rarely been described. We have previously reported a family with severe, mostly early-lethal Joubert syndrome (JBTS) with early-onset severe retinal dystrophy (EOSRD) and polycystic kidney disease (PKD), which at that time had b...

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Detalhes bibliográficos

Principais autores:	Christian Betz, Björn Reusch, Thomas Langmann, Sandra Habbig, Bodo B. Beck, Hanno J. Bolz
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2025-07-01
coleção:	HGG Advances
Assuntos:	long-read HiFi genome sequencing PacBio Joubert syndrome CEP290 POC1B ciliopathy
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2666247725000326
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