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63 Possible Causes for Most Cases due to De Novo Mutations

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  • Ondine Syndrome

    Most cases are due to de novo mutations. In a few cases (5-10%), parental mosacicsm for PHOX2B mutation has been identified.[genetics4medics.com] The common mutations involve expansion of this repeat sequence (24-33 repeats). A small number of cases are due to other types of mutations (point/deletion/duplication).[genetics4medics.com]

  • Familial Adenomatous Polyposis

    Most cases are inherited from a parent; however, up to 25% of cases are due to a spontaneous de novo mutation.[invitae.com]

  • Benign Familial Infantile Epilepsy

    In some individuals, the disorder is due to a new (de novo) genetic mutation that occurs in the egg or sperm cell.[kcnq2cure.org] Most cases of KCNQ2E occur de novo; however, a small number inherited them from an unaffected or mildly affected parent in a pattern called mosaicism.[kcnq2cure.org]

  • Benign Familial Neonatal Epilepsy

    In some individuals, the disorder is due to a new (de novo) genetic mutation that occurs in the egg or sperm cell.[kcnq2cure.org] Most cases of KCNQ2E occur de novo; however, a small number inherited them from an unaffected or mildly affected parent in a pattern called mosaicism.[kcnq2cure.org]

  • Marfan Syndrome

    About 15–30% of all cases are due to de novo genetic mutations ; [18] such spontaneous mutations occur in about one in 20,000 births.[en.wikipedia.org] Most individuals with MFS have another affected family member.[en.wikipedia.org] Genetics [ edit ] Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature.[en.wikipedia.org]

  • Early Infantile Epileptic Encephalopathy

    In some individuals, the disorder is due to a new (de novo) genetic mutation that occurs in the egg or sperm cell.[kcnq2cure.org] Most cases of KCNQ2E occur de novo; however, a small number inherited them from an unaffected or mildly affected parent in a pattern called mosaicism.[kcnq2cure.org]

  • Dravet Syndrome

    Most mutations are de novo but in 5-10% they are familial and often part of the generalized epilepsy with febrile seizures-plus (GEFS ; see this term) spectrum.[orpha.net] Etiology Around 85% of DS cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons[orpha.net]

  • Cryopyrin-Associated Periodic Syndrome

    Inheritance of CAPS is generally autosomal‐dominant, although sporadic cases of NOMID/CINCA syndrome, MWS ( 6 ), and FCAS ( 9 ) due to de novo mutations have been described[onlinelibrary.wiley.com] Mutations in the NLRP3 gene on chromosome 1q44 are found in most patients with CAPS ( 1, 9, 10 ).[onlinelibrary.wiley.com]

  • Neonatal Severe Primary Hyperparathyroidism

    […] of CaSR gene; and 4) sporadic neonatal hyperparathyroidism due to de novo heterozygous CaSR mutations [ 9 ].[theijcp.org] Most of the literature on PHPT in pediatric patients has been limited to case reports and small series.[theijcp.org] […] from an inactivating mutation of the calcium sensing receptor (CaSR) gene; 3) neonatal severe hyperparathyroidism (NSHPT) in children with homozygous or double heterozygous mutations[theijcp.org]

  • CADASIL Syndrome

    Most individuals with CADASIL have a parent with the disorder but CADASIL can be due to a spontaneous genetic mutation that occurs for unknown reasons (de novo mutation).[rarediseases.org] In these cases, there is no previous family history of the disorder.[rarediseases.org]

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