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23 Possible Causes for All Reported Cases Have De Novo Mutations

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  • Fabry Disease

    Nine cases of molecularly proven de novo (novel) point mutations have been reported to date by ourselves and other investigators ( Table 4 ) and an individual carrying a ([ncbi.nlm.nih.gov] Based on theoretical considerations, we have speculated that it might be approximately 3–10% of all cases [ 7 ].[ncbi.nlm.nih.gov] The frequency of de novo mutations in Fabry disease is unknown.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy 26

    Definition A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients[…][uniprot.org]

  • Optic Atrophy

    Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n 3) and/or autism (n 3).[ncbi.nlm.nih.gov] A literature review revealed 33 different SCN2A mutations in 14 families with benign forms of epilepsy and in 21 cases with severe phenotypes.[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    All reported cases of this syndrome have been sporadic, resulting from de novo deletion or heterozygous mutation of the ZFHX1B gene.[doi.org]

  • Dystrophic Epidermolysis Bullosa

    All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] Here we report another de novo mutation of c.5282G A (p.Gly1761Asp) in exon 60.[medicaljournals.se]

  • Degenerative Brain Disorder

    To date, all reported affected individuals have been simplex cases (i.e., a single occurrence in a family).[nbiadisorders.org] The majority are females, indicating the mutations are new, or de novo, and suggesting that mutations are lethal in most males.[nbiadisorders.org]

  • Mandibulofacial Dysostosis

    To date, 26 missense mutations in PDE4D gene associated with acrodysostosis type 2 have been identified (including the novel mutation in the family discussed in this case[jcrpe.org] All mutations described so far were sporadic, heterozygous de novo mutations, except for very few families with a genetically proven autosomal dominant inheritance of PDE4D[jcrpe.org] report).[jcrpe.org]

  • Canavan Disease

    Almost all affected males inherited the duplication from their mother, rarely have de novo cases been reported.[ncbi.nlm.nih.gov] In contrast to whole-gene duplications of methyl CpG binding protein 2 gene ( MECP2), mutations or deletions of this gene cause Rett syndrome in females and severe encephalopathy[ncbi.nlm.nih.gov]

  • Lissencephaly

    So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations in TUBA1A have been described in patients with lissencephaly and pachygyria. We report a mutation in TUBA1A as a cause of polymicrogyria.[ncbi.nlm.nih.gov]

  • Mitochondrial DNA Deletion Syndrome with Progressive Myopathy

    Nearly all cases of Pearson's syndrome arise from de novo deletions; mitochondria have extremely poor DNA repair mechanisms, and mutations accumulate very rapidly.[path.upmc.edu] There is a reported case of multiple, different mtDNA deletions present in two brothers with Pearson's syndrome, as well as in their asymptomatic mother (9).[path.upmc.edu]

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