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Eur J Med Genet ; 63(2): 103660, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31048081

RESUMO

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.


Assuntos
Edema Encefálico/diagnóstico , Edema Encefálico/genética , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/genética , Proteínas Nucleares/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Espasmos Infantis/diagnóstico , Espasmos Infantis/genética , Fatores de Transcrição/genética , Edema Encefálico/congênito , Edema Encefálico/diagnóstico por imagem , Bases de Dados Genéticas , Edema/genética , Síndromes Epilépticas/genética , Feminino , Finlândia , Heterozigoto , Humanos , Recém-Nascido , Mutação de Sentido Incorreto , Doenças Neurodegenerativas/congênito , Doenças Neurodegenerativas/diagnóstico por imagem , Atrofia Óptica/congênito , Atrofia Óptica/diagnóstico por imagem , Fenótipo , Espasmos Infantis/congênito , Espasmos Infantis/diagnóstico por imagem , Sequenciamento do Exoma , Sequenciamento Completo do Genoma
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