Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – a case report

Abstract Background: Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype and age of onset is variable. Case Presentation: In this case report whole exome sequencing (WES) revealed a not previously reported de novo variant c.2686T>G, p.(Phe896Val) in SAMD9L in a patient with widespread findings of slow developing pathology in the peripheral and central nervous system. The clinical picture was dominated by neurological symptoms, unlike previously described cases, and in addition dural ectasias and multiple cysts in the brain was observed using magnetic resonance imaging. Conclusions: This case underscores the effect of variable expressivity, i.e. different mutations in the same gene can cause different phenotypes. Keywords: Leukoencephalopathia, demyelinating peripheral neuropathy, dural ectasia explained, de novo mutation, the SAMD9L gene.

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Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – A case report

10.21203/rs.2.307/v2 ◽

2019 ◽

Author(s):

Sofia Thunström ◽

Markus Axelsson

Keyword(s):

Case Report ◽

De Novo ◽

Age Of Onset ◽

De Novo Mutation ◽

Missense Mutations ◽

Case Presentation ◽

Whole Exome ◽

Demyelinating Peripheral Neuropathy ◽

The Brain ◽

Multiple Cysts

Abstract Background: Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype and age of onset is variable. Case presentation: In this case report whole exome sequencing (WES) revealed a not previously reported de novo variant c.2686T>G, p.(Phe896Val) in SAMD9L in a patient with widespread findings of slow developing pathology in the peripheral and central nervous system. The clinical picture was dominated by neurological symptoms, unlike previously described cases, and in addition dural ectasias and multiple cysts in the brain was observed using magnetic resonance imaging. Conclusions: This case underscores the effect of variable expressivity, i.e. different mutations in the same gene can cause different phenotypes.

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Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – A case report

10.21203/rs.2.307/v3 ◽

2019 ◽

Author(s):

Sofia Thunström ◽

Markus Axelsson

Keyword(s):

Case Report ◽

De Novo ◽

Age Of Onset ◽

De Novo Mutation ◽

Missense Mutations ◽

Case Presentation ◽

Whole Exome ◽

Demyelinating Peripheral Neuropathy ◽

The Brain ◽

Multiple Cysts

Abstract Background: Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype and age of onset is variable. Case presentation: In this case report whole exome sequencing (WES) revealed a not previously reported de novo variant c.2686T>G, p.(Phe896Val) in SAMD9L in a patient with widespread findings of slow developing pathology in the peripheral and central nervous system. The clinical picture was dominated by neurological symptoms, unlike previously described cases, and in addition dural ectasias and multiple cysts in the brain was observed using magnetic resonance imaging. Conclusions: This case underscores the effect of variable expressivity, i.e. different mutations in the same gene can cause different phenotypes.

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A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report

Frontiers in Genetics ◽

10.3389/fgene.2019.01194 ◽

2019 ◽

Vol 10 ◽

Author(s):

Fengchang Qiao ◽

Binbin Shao ◽

Chen Wang ◽

Yan Wang ◽

Ran Zhou ◽

...

Keyword(s):

Case Report ◽

Intellectual Disability ◽

De Novo ◽

De Novo Mutation ◽

Chinese Case

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Case Report: Follow Up of a Patient with De Novo Mutation at Kcna2 Gene Leading to Ataxia and Epileptic Encephalopathy

Advancements in Case Studies ◽

10.31031/aics.2020.02.000545 ◽

2020 ◽

Vol 2 (4) ◽

Author(s):

Zanluchi VBS

Keyword(s):

Case Report ◽

De Novo ◽

Epileptic Encephalopathy ◽

De Novo Mutation

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Collagen-based biomaterials with possible therapeutic effects

Journal of Mind and Medical Sciences ◽

10.22543/7674.82.p324329 ◽

2021 ◽

pp. 324-329

Author(s):

Ramona Nedelcuţă ◽

Gigi Călin ◽

Mihai Nedelcuţă ◽

Vlad Baleanu ◽

Dragos Davitoiu ◽

...

Keyword(s):

Case Report ◽

Genetic Disease ◽

De Novo ◽

De Novo Mutation ◽

Stevens Johnson Syndrome ◽

Therapeutic Effects ◽

Enzymatic Process ◽

Johnson Syndrome ◽

Collagen Membranes ◽

Definition Of

Epidermolysis bullosa (EB) is a rare, serious genetic disease, incurable through the current means. Apart from this initial definition, there was later some ease in the definition of the disease, including the manifestations of toxic epidermal necrolysis and Stevens Johnson syndrome in this entity. In medical practice, there are cases that do not overlap with the description in the literature, thus the treatment must be adapted and personalized to the particularities. We present the case of a female new-born, with "de novo" mutation for the early-onset antenatal epidermolysis and our personalized therapeutic management, based on collagen from bovine corneas by enzymatic process. The histological examination showed that the collagen membranes serve as a support for the epithelial cells that formed a surface monolayer after 48 hours. Therefore. this case report shows that collagen-based biomaterials could be used to accelerate the dermal-epidermal healing in various conditions of the child, such as Stevens Johnson syndrome, bullous epidermolysis and widespread burns.

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Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy

Frontiers in Pediatrics ◽

10.3389/fped.2021.604105 ◽

2021 ◽

Vol 9 ◽

Author(s):

Yanping Wei ◽

Min Qian

Keyword(s):

Peripheral Neuropathy ◽

Developmental Delay ◽

De Novo ◽

Refractory Epilepsy ◽

De Novo Mutation ◽

Global Developmental Delay ◽

Missense Mutations ◽

Related Protein ◽

Resonance Imaging ◽

Genetic Results

DNM1L encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several de novo heterozygous missense mutations in DNM1L have been reported, which were characterized by devastating courses with refractory epilepsy, myoclonus, and brain atrophy on MRI. We describe a 4.5-year-old male child harboring a novel de novo mutation in DNM1L presenting a phenotype of developmental delay, ataxia, and peripheral neuropathy. The clinical features, magnetic resonance imaging findings, and genetic results were summarized. Meanwhile, all the cases of DNM1L mutations reported were reviewed. DNM1L variants may need to be considered in phenotypes that include global developmental delay, peripheral neuropathy, and ataxia.

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