A de novo missense mutation of VPS16 in a Chinese patient with generalized dystonia with myoclonus

2021 ◽  
Author(s):  
Xiaojing Gu ◽  
Junyu Lin ◽  
Yanbing Hou ◽  
Lingyu Zhang ◽  
Huifang Shang
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Chinese Patient ◽  
Generalized Dystonia

scholarly journals A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Li Xu ◽  
Zijuan Peng ◽  
Chunhui Zhou ◽  
Jiqing Wang ◽  
Hunjin Luo ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Chinese Patient ◽  
Chinese Woman ◽  
De Novo Mutation ◽  
Spastic Paraplegia ◽  
Gene Segregation ◽  
Whole Exome ◽  
The Family ◽  
Family Gene

Background. Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.1496G>A, p.Arg499His) and a nonsense mutation in the NEFH gene (c.289G>T, p.Glu97 ∗ ) via whole-exome sequencing; this finding corroborated that of Sanger sequencing. The patient exhibited the pure SPG4 phenotype with onset during childhood. The SPAST mutation was absent in the parents and paternal relatives. However, the NEFH mutation was identified in five people with no clinical phenotype. Based on theoretical conjecture and the family gene segregation information, we concluded that the SPAST mutation, but not the NEFH mutation, accounted for the proband’s phenotype. Eventually, the woman gave birth to a healthy baby girl with the NEFH mutation. Conclusion. In this report, we identified a missense mutation in the SPAST gene (p.Arg499His) in a 27-year-old pregnant Chinese woman with HSP. We believe that this study expands the knowledge about the clinical parameters and mutation spectrum of SPG4.

scholarly journals A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qingyun Kang ◽  
Liming Yang ◽  
Hongmei Liao ◽  
Sai Yang ◽  
Xiaojun Kuang ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Chinese Patient ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Surface Receptors ◽  
Paediatric Case ◽  
Coding Variants

Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported. Case presentation A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports. Conclusions These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.

A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy

2019 ◽  
Vol 50 (03) ◽  
pp. 197-201
Author(s):  
S. Schmid ◽  
M. Wagner ◽  
C. Goetz ◽  
C. Makowski ◽  
P. Freisinger ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Missense Mutation ◽  
De Novo ◽  
Mitochondrial Fission ◽  
Refractory Status Epilepticus ◽  
Sudden Onset ◽  
Epileptic Encephalopathy ◽  
Neurologic Outcome ◽  
Dominant Negative Mutation ◽  
Refractory Status

AbstractMitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

2008 ◽  
Vol 146A (8) ◽  
pp. 1032-1037 ◽  
Author(s):  
Matías Morín ◽  
Antonio Viñuela ◽  
Teresa Rivera ◽  
Manuela Villamar ◽  
Miguel A. Moreno-Pelayo ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Missense Mutation ◽  
De Novo ◽  
Sporadic Case ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Gene Encoding ◽  
Type Iv

A de novo missense mutation inSLC12A5found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures

2017 ◽  
Vol 92 (6) ◽  
pp. 654-658 ◽  
Author(s):  
T. Saito ◽  
A. Ishii ◽  
K. Sugai ◽  
M. Sasaki ◽  
S. Hirose
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Compound Heterozygote ◽  
Focal Seizures

scholarly journals Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1238
Author(s):  
Olga Mironovich ◽  
Elena Dadali ◽  
Sergey Malmberg ◽  
Tatyana Markova ◽  
Oxana Ryzhkova ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Clinical Presentation ◽  
De Novo ◽  
Clinical Manifestations ◽  
Motor Neuropathy ◽  
Rare Type ◽  
Hereditary Motor ◽  
Electrophysiological Testing ◽  
Hereditary Motor Neuropathy ◽  
De Novo Variant

Objective: To report the first de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy. Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient. Results: We reported a proband with a new de novo missense mutation, c.917C>T (p.Ser306Leu), in the C2B domain of SYT2. The clinical presentation was similar to that of phenotypes described in previous studies. A notable feature in our study was normal electrophysiological testing results of the patient. Conclusions: In this study we reinforced the association between SYT2 mutations and distal hereditary motor neuropathy. We also described the clinical presentation of the patient carrying this pathogenic variant and provided unusual results of electrophysiological testing. The results showed that a diagnosis of SYT2-associated neuropathy should be based on the similarity of clinical manifestations, rather than the results of electrophysiological testing.

Sign in / Sign up

Export Citation Format

Share Document