Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10312639" target="_blank" >RIV/00216208:11110/15:10312639 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10312639

Výsledek na webu

<a href="http://dx.doi.org/10.1002/ana.24496" target="_blank" >http://dx.doi.org/10.1002/ana.24496</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ana.24496" target="_blank" >10.1002/ana.24496</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Popis výsledku v původním jazyce

Objective: To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods: Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results: Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T-2 signal abnormalities and diffusion restriction in the posterior limbof the internal capsule, often also optic radiation, brainstem tracts, and cerebellar white matter, in combination with delayed myelination and progressive brain atrophy. Patients presented with early infantile onset encephalopathy characterized by progressive microcephaly, seizures, variable cardiac defects, and early death. Metabolic testing was unrevealing. Single nucleotide polymorphism array revealed 1 overlapping homozygous region on chromosome 20 in the consanguineous families. I

Název v anglickém jazyce

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Popis výsledku anglicky

Objective: To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods: Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results: Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T-2 signal abnormalities and diffusion restriction in the posterior limbof the internal capsule, often also optic radiation, brainstem tracts, and cerebellar white matter, in combination with delayed myelination and progressive brain atrophy. Patients presented with early infantile onset encephalopathy characterized by progressive microcephaly, seizures, variable cardiac defects, and early death. Metabolic testing was unrevealing. Single nucleotide polymorphism array revealed 1 overlapping homozygous region on chromosome 20 in the consanguineous families. I

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

—

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Annals of Neurology

ISSN

0364-5134

e-ISSN

—

Svazek periodika

78

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

649-658

Kód UT WoS článku

000362668100014

EID výsledku v databázi Scopus

2-s2.0-84942365289