Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10504770" target="_blank" >RIV/00064203:_____/25:10504770 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/25:10504770

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=6acF8m7MvT" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=6acF8m7MvT</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ejmg.2025.105055" target="_blank" >10.1016/j.ejmg.2025.105055</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism

Popis výsledku v původním jazyce

Biallelic variants in the FIG4 gene cause Charcot-Marie-Tooth type 4J (CMT4J) and Yunis-Varon syndrome. There is increasing evidence of phenotypic overlap between CMT4J and Yunis-Varon syndrome, which presents with peripheral neuropathy and central nervous system (CNS) abnormalities, particularly parkinsonism. We aim to extend and specify the phenotype-genotype correlation of the FIG4 variants by presenting four cases of CMT4J, including two with parkinsonism. All patients carried the pathogenic FIG4 variant c.122T&gt;C p.(Ile41Thr) in compound heterozygosity with another variant: c.793C&gt;T p.(Arg265*), c.498-1G&gt;A, or c.447-2A&gt;C. Disease onset occurred in the first or second decade of life. All presented with demyelinating sensorimotor polyneuropathy, distal muscle weakness of the upper and lower limbs, and foot deformity. In one patient, the muscle weakness was asymmetrical. Two patients developed parkinsonism. Our findings expand the phenotypic spectrum of FIG4-related disorders, reinforcing the link between CMT4J and parkinsonism. These insights are crucial for improving genetic diagnosis and advancing potential therapeutic strategies.

Název v anglickém jazyce

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism

Popis výsledku anglicky

Biallelic variants in the FIG4 gene cause Charcot-Marie-Tooth type 4J (CMT4J) and Yunis-Varon syndrome. There is increasing evidence of phenotypic overlap between CMT4J and Yunis-Varon syndrome, which presents with peripheral neuropathy and central nervous system (CNS) abnormalities, particularly parkinsonism. We aim to extend and specify the phenotype-genotype correlation of the FIG4 variants by presenting four cases of CMT4J, including two with parkinsonism. All patients carried the pathogenic FIG4 variant c.122T&gt;C p.(Ile41Thr) in compound heterozygosity with another variant: c.793C&gt;T p.(Arg265*), c.498-1G&gt;A, or c.447-2A&gt;C. Disease onset occurred in the first or second decade of life. All presented with demyelinating sensorimotor polyneuropathy, distal muscle weakness of the upper and lower limbs, and foot deformity. In one patient, the muscle weakness was asymmetrical. Two patients developed parkinsonism. Our findings expand the phenotypic spectrum of FIG4-related disorders, reinforcing the link between CMT4J and parkinsonism. These insights are crucial for improving genetic diagnosis and advancing potential therapeutic strategies.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/LX22NPO5107" target="_blank" >LX22NPO5107: Národní ústav pro neurologický výzkum</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

European Journal of Medical Genetics

ISSN

1769-7212

e-ISSN

1878-0849

Svazek periodika

78

Číslo periodika v rámci svazku

December

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

9

Strana od-do

105055

Kód UT WoS článku

001618431400001

EID výsledku v databázi Scopus

2-s2.0-105021120573