@article {726,
	title = {PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.},
	journal = {Eur J Med Genet},
	volume = {63},
	year = {2020},
	month = {2020 Feb},
	pages = {103660},
	abstract = {<p>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 population. We describe the first patient outside Finland who carries compound heterozygous variants in ZNHIT3 gene causing PEHO syndrome. Trio genome sequencing was carried out and the identified variants were confirmed by Sanger sequencing. The patient filled all diagnostic clinical criteria of PEHO syndrome. We identified biallelic missense variants in ZNHIT3 gene: the c.92C > T p.(Ser31Leu) variant (NM_004773.3), which is described previously as causing PEHO syndrome and the second novel variant c.41G > T p.(Cys14Phe). There are only eight heterozygous carriers of c.41G > T variant in the gnomAD database and it is predicted damaging by multiple in silico algorithms. The ZNHIT3-associated PEHO syndrome exists outside of the Finnish population.</p>},
	keywords = {Brain Edema, Databases, Genetic, Edema, Epileptic Syndromes, Female, Finland, Heterozygote, Humans, Infant, Newborn, Mutation, Missense, Neurodegenerative Diseases, Nuclear Proteins, Optic Atrophy, Phenotype, Spasms, Infantile, Transcription Factors, Whole Exome Sequencing, Whole Genome Sequencing},
	issn = {1878-0849},
	doi = {10.1016/j.ejmg.2019.04.017},
	author = {{\~O}unap, Katrin and Muru, Kai and {\~O}iglane-Shlik, Eve and Ilves, Pilvi and Pajusalu, Sander and Kuus, Imbi and Wojcik, Monica H and Reimand, Tiia}
}
@article {675,
	title = {A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.},
	journal = {Eur J Hum Genet},
	volume = {27},
	year = {2019},
	month = {2019 Nov},
	pages = {1649-1658},
	abstract = {<p>Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to describe trends in the live birth prevalence of these disorders between 1998 and 2016, and to compare the results with previously published data. We retrospectively reviewed the records of all Estonian patients since 1998 with both molecularly and clinically diagnosed ImpDis. A prospective study was also conducted, in which all patients with clinical suspicion for an ImpDis were molecularly analyzed. Eighty-seven individuals with ImpDis were identified. Twenty-seven (31\%) of them had Prader-Willi syndrome (PWS), 15 (17\%) had Angelman syndrome (AS), 15 (17\%) had Silver-Russell syndrome (SRS), 12 (14\%) had Beckwith-Wiedemann syndrome (BWS), 10 (11\%) had pseudo- or pseudopseudohypoparathyroidism, four had central precocious puberty, two had Temple syndrome, one had transient neonatal diabetes mellitus, and one had myoclonus-dystonia syndrome. One third of SRS and BWS cases fulfilled the diagnostic criteria for these disorders, but tested negative for genetic abnormalities. Seventy-six individuals were alive as of January 1, 2018, indicating the total prevalence of ImpDis in Estonia is 5.8/100,000 (95\% CI 4.6/100,000-7.2/100,000). The minimum live birth prevalence of all ImpDis in Estonia in 2004-2016 was 1/3,462, PWS 1/13,599, AS 1/27,198, BWS 1/21,154, SRS 1/15,866, and PHP/PPHP 1/27,198. Our results are only partially consistent with previously published data. The worldwide prevalence of SRS and GNAS-gene-related ImpDis is likely underestimated and may be at least three times higher than expected.</p>},
	issn = {1476-5438},
	doi = {10.1038/s41431-019-0446-x},
	author = {Yakoreva, Maria and Kahre, Tiina and {\v Z}ordania, Riina and Reinson, Karit and Teek, Rita and Tillmann, Vallo and Peet, Aleksandr and {\~O}iglane-Shlik, Eve and Pajusalu, Sander and Murumets, {\"U}lle and Vals, Mari-Anne and Mee, Pille and Wojcik, Monica H and {\~O}unap, Katrin}
}
