| Literature DB >> 33040083 |
Masamune Sakamoto1,2, Kazuhiro Iwama1,2, Futoshi Sekiguchi1, Hideaki Mashimo3, Satoko Kumada3, Keiko Ishigaki4, Nobuhiko Okamoto5, Mahdiyeh Behnam6, Mohsen Ghadami7,8, Eriko Koshimizu1, Satoko Miyatake1,9, Satomi Mitsuhashi1, Takeshi Mizuguchi1, Atsushi Takata1, Hirotomo Saitsu10, Noriko Miyake11, Naomichi Matsumoto12.
Abstract
Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation includes early-onset severe developmental delay, progressive motor neuronopathy, and cerebellar and pontine atrophy. Recently two variants in the EXOSC9 gene (MIM: 606180), NM_001034194.1: c.41T>C (p.Leu14Pro) and c.481C>T (p.Arg161*) were identified in four unrelated patients with PCH type 1D (PCH1D) (MIM: 618065). EXOSC9 encodes a component of the exosome complex, which is essential for correct processing and degradation of RNA. We report here two PCH1D families with biallelic EXOSC9 variants: c.239T>G (p.Leu80Arg) and c.484dupA (p.Arg162Lysfs*3) in one family and c.151G>C (p.Gly51Arg) in the other family. Although the patients studied here showed similar clinical features as previously described for PCH1D, relatively greater intellectual development (although still highly restricted) and normal pontine structure were recognized. Our findings expand the clinical consequences of biallelic EXOSC9 variants.Entities:
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Year: 2020 PMID： 33040083 DOI： 10.1038/s10038-020-00853-2
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172