{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:29:27Z","timestamp":1762928967880,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T00:00:00Z","timestamp":1658793600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Pontocerebellar hypoplasia (PCH) is an autosomal recessive, neurodegenerative disorder with multiple subtypes leading to severe neurodevelopmental disabilities. PCH type 1 D is linked to alterations in the EXOSC9 gene. EXOSC9 is a component of the RNA exosome, an evolutionarily conserved ribonuclease complex essential for RNA degradation and processing. The clinical phenotype is characterized by cerebellar and pontine hypoplasia associated with motor neuronopathy. To date, nine patients have been reported in the literature with PCH1D. We report the case of an infant with PCH type 1D due to two variants in the EXOCS9 gene (NM_001034194.1: c.41T&gt;C-p.Leu14Pro) and a novel variant (c.643C&gt;T-p.Arg212*). This report thoroughly reviews the literature PCH1D and highlights the crucial role of the exosome in cellular homeostasis.<\/jats:p>","DOI":"10.3390\/jcm11154335","type":"journal-article","created":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T04:59:16Z","timestamp":1658897956000},"page":"4335","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2324-1208","authenticated-orcid":false,"given":"Ivana","family":"Dabaj","sequence":"first","affiliation":[{"name":"Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, CHU de Rouen, F-76000 Rouen, France"},{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adnan","family":"Hassani","sequence":"additional","affiliation":[{"name":"Department of Radiology, CHUROUEN, F-76000 Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence \u201cMalformations et Maladies Cong\u00e9nitales du Cervelet\u201d, APHP, Sorbonne Universit\u00e9, F-75012 Paris, France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Armand Trousseau, APHP, Sorbonne Universit\u00e9, F-75012 Paris, France"},{"name":"Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Qebibo","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence \u201cMalformations et Maladies Cong\u00e9nitales du Cervelet\u201d, APHP, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Marie","family":"Guerrot","sequence":"additional","affiliation":[{"name":"Department of Genetics, CHUROUEN, F-76000 Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2858-148X","authenticated-orcid":false,"given":"St\u00e9phane","family":"Marret","sequence":"additional","affiliation":[{"name":"Department of Neonatalogy, Pediatric Intensive Care and Neuropediatrics, CHU de Rouen, F-76000 Rouen, France"},{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-2678","authenticated-orcid":false,"given":"Abdellah","family":"Tebani","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France"},{"name":"Department of Metabolic Biochemistry, CHUROUEN, F-76000 Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6184-7270","authenticated-orcid":false,"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Normandie University, UNIROUEN, CHUROUEN, INSERM U1245, F-76000 Rouen, France"},{"name":"Department of Metabolic Biochemistry, CHUROUEN, F-76000 Rouen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1055\/s-0040-1716900","article-title":"Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia","volume":"52","author":"Barth","year":"2021","journal-title":"Neuropediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/ajmg.c.31403","article-title":"Pontocerebellar hypoplasia","volume":"166","author":"Barth","year":"2014","journal-title":"Am. 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