{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:15:02Z","timestamp":1787004902943,"version":"build-2736575974"},"reference-count":20,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. Pontocerebellar hypoplasia type 1B is caused by mutations in EXOSC3 gene. High prevalence of the p.Gly31Ala mutation was found recently, especially in the Roma ethnic minority. We present a young Bulgarian Roma family with two deceased newborn children manifesting severe neuromuscular disorder including severe muscle weakness, respiratory distress, and multiple joint contractures. Based on the clinical signs and family's population characteristics, DNA testing for the previously described EXOSC3 in Bulgarian Roma mutation c.92G\u2009&gt;\u2009C; p.Gly31Ala was performed on blood samples of both parents and they were found to be heterozygous carriers. This finding indirectly confirmed the diagnosis of pontocerebellar hypoplasia type B in the deceased offspring. Knowledge of population-specific molecular bases of genetic conditions was the key to final diagnosis in the presented family. Designing of population-based clinical-genetic panels may be a powerful diagnostic tool for patients with such origin. Preconception carrier screening in high-risk population groups is a feasible option to discuss.<\/jats:p>","DOI":"10.1055\/s-0040-1718536","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T19:04:37Z","timestamp":1602183877000},"page":"253-256","source":"Crossref","is-referenced-by-count":2,"title":["Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children"],"prefix":"10.53391","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0969-9335","authenticated-orcid":false,"given":"Irena","family":"Bradinova","sequence":"additional","affiliation":[{"name":"National Genetic Laboratory, University Hospital of Obstetrics and Gynecology \u201cMaichin dom,\u201d Medical University Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Andonova","sequence":"additional","affiliation":[{"name":"National Genetic Laboratory, University Hospital of Obstetrics and Gynecology \u201cMaichin dom,\u201d Medical University Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey","family":"Savov","sequence":"additional","affiliation":[{"name":"National Genetic Laboratory, University Hospital of Obstetrics and Gynecology \u201cMaichin dom,\u201d Medical University Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"52","DOI":"10.33590\/emjneurol\/10311303","article-title":"Classification of Pontocerebellar Hypoplasia: where does it end?","volume":"7","author":"B Appelhof","year":"2019","journal-title":"EMJ Neurol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1136\/adc.36.185.96","article-title":"Cerebellar hypoplasia in Werdnig-Hoffmann disease","volume":"36","author":"R M Norman","year":"1961","journal-title":"Arch Dis Child"},{"issue":"06","key":"ref3","first-page":"411","article-title":"Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset","volume":"15","author":"P G Barth","year":"1993","journal-title":"Brain Dev"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1750-1172-6-50","article-title":"Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia","volume":"6","author":"Y Namavar","year":"2011","journal-title":"Orphanet J Rare Dis"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/s13023-018-0826-2","article-title":"What's new in pontocerebellar hypoplasia? An update on genes and subtypes","volume":"13","author":"T van Dijk","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1750-1172-9-23","article-title":"EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations","volume":"9","author":"V R Eggens","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1212\/WNL.0b013e31827f0f66","article-title":"Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations","volume":"80","author":"S Rudnik-Sch\u00f6neborn","year":"2013","journal-title":"Neurology"},{"issue":"06","key":"ref9","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/ng.2254","article-title":"Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration","volume":"44","author":"J Wan","year":"2012","journal-title":"Nat Genet"},{"issue":"04","key":"ref10","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3109\/01677063.2013.814651","article-title":"Homozygous EXOSC3 mutation c.92G\u2192C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma","volume":"27","author":"J Schwabova","year":"2013","journal-title":"J Neurogenet"},{"issue":"04","key":"ref11","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.ejpn.2018.03.011","article-title":"Pontocerebellar hypoplasia type 1 for the neuropediatrician: genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature","volume":"22","author":"I Ivanov","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"issue":"03","key":"ref12","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.pediatrneurol.2004.10.003","article-title":"Severe lethal spinal muscular atrophy variant with arthrogryposis","volume":"32","author":"S U Kizilates","year":"2005","journal-title":"Pediatr Neurol"},{"key":"ref13","first-page":"6509493","article-title":"Inherited paediatric motor neuron disorders: beyond spinal muscular atrophy","volume":"2017","author":"H L Teoh","year":"2017","journal-title":"Neural Plast"},{"issue":"01","key":"ref14","first-page":"21","article-title":"Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)","volume":"9","author":"S M Chou","year":"1990","journal-title":"Clin Neuropathol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/brain\/awq287","article-title":"Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia","volume":"134","author":"Y Namavar","year":"2011","journal-title":"Brain"},{"issue":"04","key":"ref16","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.pediatrneurol.2008.06.017","article-title":"Pontocerebellar hypoplasia type 1","volume":"39","author":"N Szab\u00f3","year":"2008","journal-title":"Pediatr Neurol"},{"issue":"01","key":"ref17","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/ajmg.a.10863","article-title":"Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy","volume":"117A","author":"S Rudnik-Sch\u00f6neborn","year":"2003","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref18","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0960-8966(94)E0025-4","article-title":"Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration","volume":"5","author":"S Rudnik-Sch\u00f6neborn","year":"1995","journal-title":"Neuromuscul Disord"},{"issue":"01","key":"ref19","first-page":"11","article-title":"Neuromuscular disorders in the Gypsy ethnic group. A short review","volume":"22","author":"C Navarro","year":"2003","journal-title":"Acta Myol"},{"issue":"04","key":"ref20","doi-asserted-by":"crossref","first-page":"103814","DOI":"10.1016\/j.ejmg.2019.103814","article-title":"Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B","volume":"63","author":"P Saugier-Veber","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"01","key":"ref21","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/mus.26305","article-title":"Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia","volume":"59","author":"M M Pinto","year":"2019","journal-title":"Muscle Nerve"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1718536.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:56Z","timestamp":1758138356000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1718536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,8]]},"references-count":20,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2022,8,17]]},"published-print":{"date-parts":[[2022,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1718536","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,8]]}}}