Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10381334" target="_blank" >RIV/00216208:11130/18:10381334 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/18:10381334

Výsledek na webu

<a href="https://doi.org/10.1111/cge.13417" target="_blank" >https://doi.org/10.1111/cge.13417</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/cge.13417" target="_blank" >10.1111/cge.13417</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2

Popis výsledku v původním jazyce

Biallelic SBF2 mutations cause Charcot-Marie-Tooth disease type 4B2 (CMT4B2), a sensorimotor neuropathy with autosomal recessive inheritance and association with glaucoma. Since the discovery of the gene mutation, only few additional patients have been reported. We identified seven CMT4B2 families with nine different SBF2 mutations. Revisiting genetic and clinical data from our cohort and the literature, SBF2 variants were private mutations, including exon-deletion and de novo variants. The neuropathy typically started in the first decade after normal early motor development, was predominantly motor and had a rather moderate course. Electrophysiology and nerve biopsies indicated demyelination and excess myelin outfoldings constituted a characteristic feature. While neuropathy was &gt;90% penetrant at age 10years, glaucoma was absent in similar to 40% of cases but sometimes developed with age. Consequently, SBF2 mutation analysis should not be restricted to individuals with coincident neuropathy and glaucoma, and CMT4B2 patients without glaucoma should be followed for increased intraocular pressure. The presence of exon-deletion and de novo mutations demands comprehensive mutation scanning and family studies to ensure appropriate diagnostic approaches and genetic counseling.

Název v anglickém jazyce

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2

Popis výsledku anglicky

Biallelic SBF2 mutations cause Charcot-Marie-Tooth disease type 4B2 (CMT4B2), a sensorimotor neuropathy with autosomal recessive inheritance and association with glaucoma. Since the discovery of the gene mutation, only few additional patients have been reported. We identified seven CMT4B2 families with nine different SBF2 mutations. Revisiting genetic and clinical data from our cohort and the literature, SBF2 variants were private mutations, including exon-deletion and de novo variants. The neuropathy typically started in the first decade after normal early motor development, was predominantly motor and had a rather moderate course. Electrophysiology and nerve biopsies indicated demyelination and excess myelin outfoldings constituted a characteristic feature. While neuropathy was &gt;90% penetrant at age 10years, glaucoma was absent in similar to 40% of cases but sometimes developed with age. Consequently, SBF2 mutation analysis should not be restricted to individuals with coincident neuropathy and glaucoma, and CMT4B2 patients without glaucoma should be followed for increased intraocular pressure. The presence of exon-deletion and de novo mutations demands comprehensive mutation scanning and family studies to ensure appropriate diagnostic approaches and genetic counseling.

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/NV16-30206A" target="_blank" >NV16-30206A: Celogenomové a RNA masivně paralelní sekvenování jako nástroj pro objasnění příčin vzácných typů dědičných neuropatií.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

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

Název periodika

Clinical Genetics

ISSN

0009-9163

e-ISSN

—

Svazek periodika

94

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

DK - Dánské království

Počet stran výsledku

6

Strana od-do

467-472

Kód UT WoS článku

000446554800010

EID výsledku v databázi Scopus

2-s2.0-85052371462