2020
DOI: 10.1016/j.ejmg.2019.04.017
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PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene

Abstract: PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A homozygous missense substitution p.Ser31Leu in ZNHIT3 was recently identified as the primary cause of PEHO syndrome in Finland. Variants in ZNHIT3 have not been identified in patients with PEHO or PEHO-like syndrome in other populations. It has therefore been suggested that PEHO syndrome caused by ZNHIT3 variants does not occur outside of the Finnish popul… Show more

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Cited by 4 publications
(6 citation statements)
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“…1 A ). The PEHO syndrome-causing missense mutations, which result in the ZNHIT3 variants C14F and S31L, lie within the highly conserved Zf-HIT domain of ZNHIT3 ( 26 , 29 , 30 ), which shares 33% sequence identity and 45% sequence similarity between human and yeast ( Fig. 1 B ).…”
Section: Resultsmentioning
confidence: 99%
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“…1 A ). The PEHO syndrome-causing missense mutations, which result in the ZNHIT3 variants C14F and S31L, lie within the highly conserved Zf-HIT domain of ZNHIT3 ( 26 , 29 , 30 ), which shares 33% sequence identity and 45% sequence similarity between human and yeast ( Fig. 1 B ).…”
Section: Resultsmentioning
confidence: 99%
“…The majority of the studied ZNHIT3-associated PEHO syndrome cases to date are caused by homozygous expression of the ZNHIT3-S31L variant (yeast Hit1-S29L) (33). PEHO syndrome can also be caused by the compound heterozygous variants J o u r n a l P r e -p r o o f C14F and S31L (30). Because the phenotype of yeast cells expressing the Hit1-C11F variant is more severe than that of the Hit1-S29L variant, we anticipate that homozygous ZNHIT3-C14F variants may be incompatible with survival and thus underrepresented in patients.…”
Section: Discussionmentioning
confidence: 99%
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