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

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

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.

scholarly journals Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yinsen Song ◽  
Zhengping Dong ◽  
Shuying Luo ◽  
Junmei Yang ◽  
Yuebing Lu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Genetic Diseases ◽  
Amplicon Sequencing ◽  
Bone Marrow Examination ◽  
Pathogenic Mutation ◽  
Pedigree Analysis ◽  
Compound Heterozygote ◽  
Loss Of Function ◽  
Causative Gene ◽  
Chediak Higashi Syndrome

Abstract Background Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. Case presentation Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. Conclusion A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient’s parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases.

scholarly journals Epilepsy with migrating focal seizures

2019 ◽  
Vol 5 (6) ◽  
pp. e363 ◽  
Author(s):  
Giulia Barcia ◽  
Nicole Chemaly ◽  
Mathieu Kuchenbuch ◽  
Monika Eisermann ◽  
Stéphanie Gobin-Limballe ◽  
...  
Keyword(s):  
Hot Spots ◽  
De Novo ◽  
Asymptomatic Carrier ◽  
Molecular Data ◽  
Clonic Seizure ◽  
Old Patients ◽  
Nocturnal Frontal Lobe Epilepsy ◽  
Focal Seizures ◽  
Sporadic Cases ◽  
The Mean

ObjectiveTo report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine.MethodsWe reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and KCNT1 mutations, in collaboration with the network of the French reference center for rare epilepsies.ResultsThe mean seizure onset age was 1 month (range: 1 hour to 4 months), and all children had focal motor seizures with autonomic signs and migrating ictal pattern on EEG. Three children also had infantile spasms and hypsarrhythmia. The identified KCNT1 variants clustered as “hot spots” on the C-terminal domain, and all mutations occurred de novo except the p.R398Q mutation inherited from the father with nocturnal frontal lobe epilepsy, present in 2 paternal uncles, one being asymptomatic and the other with single tonic-clonic seizure. In 1 patient with EIMFS, we identified the p.R1106Q mutation associated with Brugada syndrome and saw no abnormality in cardiac rhythm. Quinidine was well tolerated when administered to 2 and 4-year-old patients but did not reduce seizure frequency.ConclusionsThe majority of the KCNT1 mutations appear to cluster in hot spots essential for the channel activity. A same mutation can be linked to a spectrum of conditions ranging from EMFSI to asymptomatic carrier, even in the same family. None of the antiepileptic therapies displayed clinical efficacy, including quinidine in 2 patients.

A de novo missense mutation of the CYLD gene with multiple familial trichoepithelioma

2020 ◽  
Author(s):  
W.‐X. Jia ◽  
W.‐R. Li ◽  
Y.‐D. Wu ◽  
Y.‐Y. Zhang ◽  
P. Cheng ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Cyld Gene

Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: A case report

2006 ◽  
Vol 95 (12) ◽  
pp. 1703-1706 ◽  
Author(s):  
Evangelia Stefanaki ◽  
Vasiliki Aggelakou ◽  
M. Orfanou ◽  
E. Kokori ◽  
S. Boutoufianakis
Keyword(s):  
Case Report ◽  
Sodium Channel ◽  
Missense Mutation ◽  
De Novo ◽  
Subunit A

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

1995 ◽  
Vol 95 (2) ◽  
Author(s):  
A. Barcel� ◽  
M. Gir�s ◽  
C.O. Sarde ◽  
G. Pintos ◽  
J.L. Mandel ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Exon 1 ◽  
Ald Gene

scholarly journals A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome

FEBS Letters ◽  
1998 ◽  
Vol 423 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Naomasa Makita ◽  
Nobumasa Shirai ◽  
Masato Nagashima ◽  
Rumiko Matsuoka ◽  
Yoichi Yamada ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Long Qt Syndrome ◽  
Molecular Mechanisms ◽  
De Novo ◽  
Na Channel ◽  
Long Qt ◽  
Qt Syndrome
Sign in / Sign up

Export Citation Format

Share Document