Novel variants broaden the mutational spectrum of Hereditary Sensory and Autonomic Neuropathy disorders
PNS 2022 Annual Meeting eLibrary. Lischka A. 04/14/22; 356009; 1156
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Novel variants broaden the mutational spectrum of Hereditary Sensory and Autonomic Neuropathy disorders
Poster No: 1156
Presenter: Annette Lischka
Institution: Institute of Human Genetics, University Hospital RWTH Aachen
Introduction: Currently approximately 20 genes have been identified in which pathogenic sequence variants lead to a monogenetic disorder of lack of pain perception. This includes clinical entities such as hereditary sensory and autonomic neuropathies (HSAN) and congenital insensitivity to pain (CIP). Clinically, the various disorders manifest themselves through repeated trauma and mutilation. Yet, small individual patient cohorts and the lack of standardized phenotype information hinder the complete elucidation of these genetic disorders.
Methods: The European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP) was established by seven research centers and two patient advocacy organizations specialized on HSAN/CIP and it aims at accumulating the knowledge from clinicians, geneticists, basic scientists and patients. For the present work, existing sequencing datasets of the ENISNIP project partners and collaborating research institutions were screened and novel likely pathogenic alterations in the already known HSAN/CIP genes were compiled.
Results: In 43 patients, we identified 45 likely disease-causing novel variants in the following HSAN/CIP genes: ATL3, DST, FLVCR1, NGF, NTRK1, PRDM12, RAB7A, SCN9A, SPTLC2 and WNK1. All variants were rare or absent from control cohorts and none had previously been reported in the literature. If applicable, the pathogenicity was corroborated by segregation analyses within the families.
Conclusions: Through compiling the existing sequencing data within the network, here we report on 45 novel pathogenic variants in known HSAN/CIP genes. This work thus expands the mutational spectrum of HSAN/CIP, gives insights in the pathogenicity and facilitates future diagnosis of affected patients of these rare disorders.
References: No
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References 2:
References 3:
References 4:
Grant Support:
Keywords: Hereditary sensory and autonomic neuropathy, Congenital insensitivity to pain
Poster No: 1156
Presenter: Annette Lischka
Institution: Institute of Human Genetics, University Hospital RWTH Aachen
Introduction: Currently approximately 20 genes have been identified in which pathogenic sequence variants lead to a monogenetic disorder of lack of pain perception. This includes clinical entities such as hereditary sensory and autonomic neuropathies (HSAN) and congenital insensitivity to pain (CIP). Clinically, the various disorders manifest themselves through repeated trauma and mutilation. Yet, small individual patient cohorts and the lack of standardized phenotype information hinder the complete elucidation of these genetic disorders.
Methods: The European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP) was established by seven research centers and two patient advocacy organizations specialized on HSAN/CIP and it aims at accumulating the knowledge from clinicians, geneticists, basic scientists and patients. For the present work, existing sequencing datasets of the ENISNIP project partners and collaborating research institutions were screened and novel likely pathogenic alterations in the already known HSAN/CIP genes were compiled.
Results: In 43 patients, we identified 45 likely disease-causing novel variants in the following HSAN/CIP genes: ATL3, DST, FLVCR1, NGF, NTRK1, PRDM12, RAB7A, SCN9A, SPTLC2 and WNK1. All variants were rare or absent from control cohorts and none had previously been reported in the literature. If applicable, the pathogenicity was corroborated by segregation analyses within the families.
Conclusions: Through compiling the existing sequencing data within the network, here we report on 45 novel pathogenic variants in known HSAN/CIP genes. This work thus expands the mutational spectrum of HSAN/CIP, gives insights in the pathogenicity and facilitates future diagnosis of affected patients of these rare disorders.
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Hereditary sensory and autonomic neuropathy, Congenital insensitivity to pain
Novel variants broaden the mutational spectrum of Hereditary Sensory and Autonomic Neuropathy disorders
Poster No: 1156
Presenter: Annette Lischka
Institution: Institute of Human Genetics, University Hospital RWTH Aachen
Introduction: Currently approximately 20 genes have been identified in which pathogenic sequence variants lead to a monogenetic disorder of lack of pain perception. This includes clinical entities such as hereditary sensory and autonomic neuropathies (HSAN) and congenital insensitivity to pain (CIP). Clinically, the various disorders manifest themselves through repeated trauma and mutilation. Yet, small individual patient cohorts and the lack of standardized phenotype information hinder the complete elucidation of these genetic disorders.
Methods: The European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP) was established by seven research centers and two patient advocacy organizations specialized on HSAN/CIP and it aims at accumulating the knowledge from clinicians, geneticists, basic scientists and patients. For the present work, existing sequencing datasets of the ENISNIP project partners and collaborating research institutions were screened and novel likely pathogenic alterations in the already known HSAN/CIP genes were compiled.
Results: In 43 patients, we identified 45 likely disease-causing novel variants in the following HSAN/CIP genes: ATL3, DST, FLVCR1, NGF, NTRK1, PRDM12, RAB7A, SCN9A, SPTLC2 and WNK1. All variants were rare or absent from control cohorts and none had previously been reported in the literature. If applicable, the pathogenicity was corroborated by segregation analyses within the families.
Conclusions: Through compiling the existing sequencing data within the network, here we report on 45 novel pathogenic variants in known HSAN/CIP genes. This work thus expands the mutational spectrum of HSAN/CIP, gives insights in the pathogenicity and facilitates future diagnosis of affected patients of these rare disorders.
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Hereditary sensory and autonomic neuropathy, Congenital insensitivity to pain
Poster No: 1156
Presenter: Annette Lischka
Institution: Institute of Human Genetics, University Hospital RWTH Aachen
Introduction: Currently approximately 20 genes have been identified in which pathogenic sequence variants lead to a monogenetic disorder of lack of pain perception. This includes clinical entities such as hereditary sensory and autonomic neuropathies (HSAN) and congenital insensitivity to pain (CIP). Clinically, the various disorders manifest themselves through repeated trauma and mutilation. Yet, small individual patient cohorts and the lack of standardized phenotype information hinder the complete elucidation of these genetic disorders.
Methods: The European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP) was established by seven research centers and two patient advocacy organizations specialized on HSAN/CIP and it aims at accumulating the knowledge from clinicians, geneticists, basic scientists and patients. For the present work, existing sequencing datasets of the ENISNIP project partners and collaborating research institutions were screened and novel likely pathogenic alterations in the already known HSAN/CIP genes were compiled.
Results: In 43 patients, we identified 45 likely disease-causing novel variants in the following HSAN/CIP genes: ATL3, DST, FLVCR1, NGF, NTRK1, PRDM12, RAB7A, SCN9A, SPTLC2 and WNK1. All variants were rare or absent from control cohorts and none had previously been reported in the literature. If applicable, the pathogenicity was corroborated by segregation analyses within the families.
Conclusions: Through compiling the existing sequencing data within the network, here we report on 45 novel pathogenic variants in known HSAN/CIP genes. This work thus expands the mutational spectrum of HSAN/CIP, gives insights in the pathogenicity and facilitates future diagnosis of affected patients of these rare disorders.
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Hereditary sensory and autonomic neuropathy, Congenital insensitivity to pain
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