Home Bratislava Medical Journal 2022 Bratislava Medical Journal Vol.123, No.8, p.568–572, 2022

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.564


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Bratislava Medical Journal Vol.123, No.8, p.568–572, 2022

Title: Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
Author: Eva RADVANSKA, Zuzana POS, Andrea ZATKOVA, Michaela HYBLOVA, Frantisek BAUER, Tomas SZEMES, Ludevit KADASI, Jan RADVANSZKY

Abstract: BACKGROUND: Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA).
OBJECTIVES: We analysed three probands (later discovered to be siblings) suspected to have severe SMA, however, not confirmed by genetic test.
METHODS: Clinical-exome analysis (Illumina) was performed to identify causative variants, followed by Sanger sequencing confirmation in probands and other 10 family members.
RESULTS: Homozygous pathogenic variant c.92G>C (p.(Gly31Ala)) in the Exosome Component 3 (EXOSC3) gene was found in all 3 probands, thus confirming the diagnosis of a severe form of PCH1B. The parents and six siblings were carriers, while one sibling was homozygous for a reference allele. This variant is frequent in the Czech Roma population, where it is considered a founder mutation. Haplotype analysis in this largest reported PCH1B family showed that our patients inherited from their father (of Roma origin) a haplotype identical to that found in the Czech Roma population, thus indicating these alleles have a common origin.
CONCLUSION: This EXOSC3 variant is rare among the general population but most likely frequent also among Roma people in Slovakia. PCH1B should be considered for a differential diagnosis in infants manifesting SMA-like phenotype, especially if of Roma origin (Tab. 1, Fig. 1, Ref. 22). Text in PDF www.elis.sk

Keywords: pontocerebellar hypoplasia, PCH1B, EXOSC3, SMA plus syndromes, pathogenic sequence variant.
Published online: 19-Jul-2022
Year: 2022, Volume: 123, Issue: 8 Page From: 568, Page To: 572

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