scholarly journals Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN : A case report

2021 ◽  
Vol 9 (7) ◽  
Author(s):  
Sheng Huang ◽  
Yinan Ma ◽  
Yu Zhang ◽  
Hui Xiong ◽  
Xingzhi Chang
Keyword(s):  
Case Report ◽  
Splice Site ◽  
De Novo ◽  
Centronuclear Myopathy ◽  
Splice Site Variant

scholarly journals A case of de novo splice site variant inSLC35A2showing developmental delays, spastic paraplegia, and delayed myelination

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Sachiko Miyamoto ◽  
Mitsuko Nakashima ◽  
Tsukasa Ohashi ◽  
Takuya Hiraide ◽  
Kenji Kurosawa ◽  
...  
Keyword(s):  
Splice Site ◽  
Developmental Delays ◽  
De Novo ◽  
Spastic Paraplegia ◽  
Splice Site Variant ◽  
Delayed Myelination

scholarly journals P.123 Severe DNM1 Encephalopathy with Dysmyelination due to Recurrent Splice Site Pathogenic Variant

2021 ◽  
Vol 48 (s3) ◽  
pp. S54-S54
Author(s):  
AN Sahly ◽  
E Krochmalnek ◽  
J St-Onge ◽  
M Srour ◽  
KA Myers
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Subcortical White Matter ◽  
Pathogenic Variant ◽  
Pcr Analysis ◽  
Global Developmental Delay ◽  
Missense Mutations ◽  
Central Domain ◽  
Splice Site Variant ◽  
T2 Hyperintensity

Background: Patients with DNM1-encephalopathy almost exclusively have missense variants, mostly in the GTPase domain of DNM1. Delayed myelination has been reported in at least three patients with DNM1-encephalopathy, all with missense mutations in the DNM1 central domain. Only one DNM1 splice-site variant has previously been reported, and the authors questioned whether the variant accounted for all aspects of the patient’s phenotype. Methods: Case-Report. Results: Our patient had hypotonia and brief multifocal tonic seizures from age-1-month. He still has profound global developmental delay, daily seizures and microcephaly. MRI-Brain at age-21-months showed T2 hyperintensity in the bilateral periventricular and subcortical white matter; spectroscopy showed a questionable lactate peak and an elevated choline peak relative to N-acetylaspartate. Clinical gene-panel identified a heterozygous de novo pathogenic variant in intron 9 of DNM1 (c.1197-8G > A; IVS9- 8G>A). In-silico tools categorized this variant as deleterious secondary to a splicing defect. RT-PCR analysis on peripheral blood was unsuccessful as DNM1 expression is extremely low outside of the brain. Conclusions: Our patient carried the same DNM1 variant previously reported, indicating this is a recurrent pathogenic splice-site variant. The spectroscopic abnormalities suggest a possible element of demyelination in DNM1 variants of the central domain, though the mechanism remains unclear.

A novel homozygous splice‐site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report

2019 ◽  
Vol 96 (1) ◽  
pp. 98-101
Author(s):  
Yunting Lin ◽  
Chunhua Zeng ◽  
Zhikun Lu ◽  
Ruizhu Lin ◽  
Li Liu
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Primary Microcephaly ◽  
Splice Site Variant

scholarly journals Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1

2016 ◽  
Vol 12 (1) ◽  
Author(s):  
Jørgen S. Agerholm ◽  
Fiona Menzi ◽  
Fintan J. McEvoy ◽  
Vidhya Jagannathan ◽  
Cord Drögemüller
Keyword(s):  
Splice Site ◽  
De Novo ◽  
Holstein Cattle ◽  
Splice Site Variant
Sign in / Sign up

Export Citation Format

Share Document