Null variants in AGRN cause lethal fetal akinesia deformation sequence
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
Clinical Genetics
ISSN
0009-9163
EISSN
1399-0004
Wydawca
WILEY-BLACKWELL
DOI
URL
Rok publikacji
2019
Numer zeszytu
brak
Strony od-do
[Online ahead of print]
Numer tomu
2019 Nov 15
Identyfikator DOI
Liczba arkuszy
Słowa kluczowe
angielski
AGRN gene
FADS
congenital myasthenic syndrome
exome sequencing
fetal akinesia deformation sequence
prenatal diagnostics
Streszczenia
Język
angielski
Treść
We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood with variable fatigable muscle weakness. To our best knowledge this is the first case of FADS caused by defects in AGRN gene. FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance: MuSK, DOK7 and RAPSN. FADS seems to be the most severe form of CMS. None of the reported in the literature CMS cases associated with AGRN had two null variants, like the case presented herein. This indicates a strong genotype-phenotype correlation. This article is protected by copyright. All rights reserved.
Cechy publikacji
short report
Inne
System-identifier
PX-5ded6155d5de19f74d8758f1
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