• A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited...
    7 KB (775 words) - 05:46, 28 March 2024
  • beginning', 'anew') may refer to: De novo mutation, a new germline mutation not inherited from either parent De novo protein design, the creation of a protein...
    2 KB (253 words) - 12:54, 20 October 2024
  • Thumbnail for Mutation
    only have occurred from at least one de novo germline mutation in the history of human evolution. De novo mutations have also been researched as playing...
    119 KB (14,215 words) - 02:12, 10 November 2024
  • Thumbnail for Germline mutation
    September 2018. Chandley AC (April 1991). "On the parental origin of de novo mutation in man". Journal of Medical Genetics. 28 (4): 217–23. doi:10.1136/jmg...
    25 KB (3,085 words) - 03:46, 17 September 2024
  • Thumbnail for Coffin–Siris syndrome
    cases of CSS appear to be the result of a de novo mutation. This syndrome has been associated with mutations in the ARID1B gene, which is the most prevalent...
    8 KB (717 words) - 04:44, 6 August 2024
  • Thumbnail for Genetic disorder
    in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from...
    35 KB (3,579 words) - 17:00, 29 October 2024
  • Thumbnail for Mutation rate
    of a mutation spectrum is the distribution of rates for all individual mutations that might happen in a genome (e.g., ). From this full de novo spectrum...
    28 KB (3,330 words) - 12:43, 7 November 2024
  • Thumbnail for Haemophilia in European royalty
    be the result of spontaneous mutation in an ancestor. Victoria's appears to have been a spontaneous or de novo mutation, most likely inherited from one...
    19 KB (2,166 words) - 20:55, 17 October 2024
  • Thumbnail for Bainbridge–Ropers syndrome
    caused by a mutation in the ASXL3 gene, which is considered a de novo mutation. Genetic changes that are described as de novo (new) mutations can be either...
    9 KB (800 words) - 21:19, 10 April 2024
  • Thumbnail for Causes of autism
    behaviors in girls, and in boys the mutation is embryonic lethal. Besides these early examples, the role of de novo mutations in autism first became evident...
    146 KB (15,822 words) - 17:34, 27 October 2024
  • Thumbnail for Rett syndrome
    Rett syndrome (category CS1 German-language sources (de))
    of Rett syndrome cases, the cause is a de novo mutation in the child, almost exclusively from a de novo mutation on the male copy of the X chromosome....
    57 KB (6,112 words) - 02:38, 27 October 2024
  • Thumbnail for Familial adenomatous polyposis
    " In addition around 20% of cases are a de novo mutation, and of those with an apparent de novo APC mutation (i.e. no known family history) 20% have somatic...
    42 KB (3,838 words) - 16:45, 27 January 2024
  • Thumbnail for Snijders Blok–Campeau syndrome
    distinctive facial features. Snijders Blok–Campeau syndrome is typically a de novo mutation which generally occurs during the early embryonic stages of development...
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  • the organism. New mutations, (often somatic, spontaneous and sporadic), not inherited from either parent are called de novo mutations. The consensus on...
    33 KB (3,474 words) - 04:21, 13 November 2024
  • have de novo mutations in the SON gene. Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion de novo mutation...
    25 KB (2,954 words) - 11:16, 11 May 2024
  • District Court for the District of New Mexico De novo mutation, one of the classifications of mutations in biology This disambiguation page lists articles...
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  • Thumbnail for Androgen insensitivity syndrome
    the time, the AR mutation is a spontaneous result, and is not inherited. Such de novo mutations are the result of a germ cell mutation or germ cell mosaicism...
    127 KB (12,546 words) - 15:06, 29 October 2024
  • Thumbnail for Tumor suppressor gene
    by inheritance of one loss of function mutation to an RB germ-line gene followed by a later de novo mutation on its functional Rb gene allele. The more...
    30 KB (3,409 words) - 03:26, 14 November 2024
  • disorder, an inborn error of metabolism from inherited mutation (as opposed to one from de novo mutation) Immunomodulatory drug (immunomodulator), a drug that...
    3 KB (340 words) - 02:25, 2 February 2024
  • Thumbnail for Pierre Robin sequence
    basis has been postulated, but it usually occurs due to a de-novo mutation. Specifically, mutations at chromosome 2 (possibly at the GAD1 gene), chromosome...
    22 KB (2,753 words) - 19:55, 23 August 2024
  • congenita caused by a de novo mutation in the SCN4A gene". Neurology Asia. 16 (2): 163–6. Kim, JB; Chung, KW (Dec 2009). "Novel de novo Mutation in the KCNJ2 gene...
    10 KB (1,263 words) - 21:29, 26 July 2024
  • Thumbnail for Hallermann–Streiff syndrome
    syndrome has not been conclusively determined. It is most likely due to a de novo mutation, and it may be associated with the GJA1 gene. Diagnosis is based on...
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  • is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. It is characterized by hypotonia, intellectual...
    9 KB (791 words) - 03:21, 10 February 2024
  • Thumbnail for Saethre–Chotzen syndrome
    normal parents can have a child with SCS due to a de novo mutation. The exact cause of the de novo mutation is unknown, but it doesn't seem to be related to...
    29 KB (2,854 words) - 08:40, 18 April 2024
  • Thumbnail for CHARGE syndrome
    no clear correlation between mutation severity and clinical presentation. Trio-WES analysis confirmed a de novo mutation in the newborn, emphasizing the...
    14 KB (1,581 words) - 15:58, 22 October 2024
  • patients analyzed, researchers identified missense de novo mutations in a set of genes. Mutations in three of these genes (DDX3X, TLK2 and HDAC8) were...
    5 KB (582 words) - 23:51, 19 November 2024
  • Thumbnail for Loss of heterozygosity
    Loss of heterozygosity (category Mutation)
    de-novo mutation, and because the fitness consequences are closer to neutrality, this process should drive Muller's ratchet more quickly than de-novo...
    11 KB (1,419 words) - 19:38, 22 September 2024
  • heterozygous de-novo missense mutation. Six patients were found with de-novo missense mutation and one patient was identified with de-novo splice site mutation. De...
    13 KB (1,394 words) - 21:29, 17 July 2024
  • Thumbnail for Treacher Collins syndrome
    mosaicism. Only 40% of the mutations are inherited. The remaining 60% are a result of a de novo mutation, where a child has a new mutation in the responsible...
    43 KB (4,743 words) - 15:06, 30 October 2024
  • Thumbnail for Heritability of autism
    de novo mutations that occurred in the father's sperm or mother's egg that disrupt important genes for brain development. These spontaneous mutations...
    114 KB (10,913 words) - 08:01, 25 October 2024