- Tytuł:
- Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.
- Autorzy:
- Źródło:
- Clinical dysmorphology [Clin Dysmorphol] 2022 Jul 01; Vol. 31 (3), pp. 113-124. Date of Electronic Publication: 2022 Mar 07.
- Typ publikacji:
- Journal Article; Review
- Język:
- English
- Imprint Name(s):
-
Publication: London : Lippincott Williams & Wilkins
Original Publication: London, UK : Chapman & Hall, c1992- - MeSH Terms:
-
Genetic Testing*/methods
Mosaicism*
Female ; Humans ; Karyotyping ; Pregnancy ; Retrospective Studies ; Universities - References:
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Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, et al. (2015). Post-zygotic point mutations are an underrecognized source of De Novo genomic variation. Am J Hum Genet. 97:67–74.
Biesecker LG, Spinner NB (2013). A genomic view of mosaicism and human disease. Nat Rev Genet. 14:307–320.
Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, et al. (2020). Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 26:143–150.
Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, et al. (2019). A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 11:48.
Carvalho AB, Guerra Júnior G, Baptista MT, de Faria AP, Marini SH, Guerra AT (2010). Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras (1992). 56:655–659.
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, et al. (2010). Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 19:1263–1275.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, et al. (2022). A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement. Clin Genet. 101:32–47.
Freed D, Pevsner J (2016). The contribution of mosaic variants to autism spectrum disorder. PLoS Genet. 12:e1006245.
Gajecka M (2016). Unrevealed mosaicism in the next-generation sequencing era. Mol Genet Genomics. 291:513–530.
Graff A, Donadille B, Morel H, Villy MC, Bourcigaux N, Vatier C, et al. (2020). Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome. Hum Reprod. 35:2391–2398.
Hook EB, Warburton D (2014). Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet. 133:417–424.
Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE (2017). Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum. Clin Genet. 91:79–85.
Kaminker CP, Daín L, Lamas MA, Sánchez JM (1985). Mosaic trisomy 9 syndrome with unusual phenotype. Am J Med Genet. 22:237–241.
Machiela MJ, Zhou W, Karlins E, Sampson JN, Freedman ND, Yang Q, et al. (2016). Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. Nat Commun. 7:11843.
Miyagawa M, Nishio SY, Kumakawa K, Usami S (2015). Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. Ann Otol Rhinol Laryngol. 124(Suppl 1):148S–157S.
Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, et al. (2018). Parental mosaicism in “De Novo” epileptic encephalopathies. N Engl J Med. 378:1646–1648.
Rohlin A, Wernersson J, Engwall Y, Wiklund L, Björk J, Nordling M (2009). Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat. 30:1012–1020.
Snyder EA, San Roman AK, Piña-Aguilar RE, Steeves MA, McNamara EA, Souter I, et al. (2021). Genetic counseling for women with 45,X/46,XX mosaicism: towards more personalized management. Eur J Med Genet. 64:104140.
Stosser MB, Lindy AS, Butler E, Retterer K, Piccirillo-Stosser CM, Richard G, McKnight DA (2018). High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. Genet Med. 20:403–410.
Wolff DJ, Van Dyke DL, Powell CM; Working Group of the ACMG Laboratory Quality Assurance Committee (2010). Laboratory guideline for Turner syndrome. Genet Med. 12:52–55.
Wright CF, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, et al. (2019). Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. Nat Commun. 10:2985.
Wu LR, Chen SX, Wu Y, Patel AA, Zhang DY (2017). Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification. Nat Biomed Eng. 1:714–723.
Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH (2017). Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Am J Med Genet A. 173:978–984. - Entry Date(s):
- Date Created: 20220308 Date Completed: 20220614 Latest Revision: 20230913
- Update Code:
- 20240104
- DOI:
- 10.1097/MCD.0000000000000418
- PMID:
- 35256561
- Czasopismo naukowe
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