X-linked BCOR-related syndrome in two male siblings.

Szczegóły

Tytuł:: X-linked BCOR-related syndrome in two male siblings.
Autorzy:: Archer NE; Department of Paediatrics, London Health Sciences Centre and Western University, London.
Mercer L; Thunder Bay Regional Health Sciences Centre Genetics Program, Thunder Bay Regional Health Sciences Centre, Thunder Bay, Ontario.
Goobie S; Maritime Medical Genetic Service, Department of Pediatrics, Izaak Walton Killam (IWK) Health Centre, Halifax, Nova Scotia.
Velsher L; Division of Clinical Genetics, North York General Hospital, North York.
Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London.
Prasad C; Department of Paediatrics, London Health Sciences Centre and Western University, London.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London.; Children's Health Research Institute, London, Ontario, Canada.
Źródło:: Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 104-109.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Publication: London : Lippincott Williams & Wilkins
Original Publication: London, UK : Chapman & Hall, c1992-
MeSH Terms:: Genes, X-Linked*
Mutation*
Phenotype*
Siblings*
Proto-Oncogene Proteins/*genetics
Repressor Proteins/*genetics
Alleles ; Genetic Association Studies ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Infant ; Karyotyping ; Magnetic Resonance Imaging ; Male ; Pedigree
References:: Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, et al. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. Clin Genet. 2014; 85:194–197.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009; 17:1325–1335.
Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, et al. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005; 13:563–569.
Ng D, Hadley DW, Tifft CJ, Biesecker LG. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Am J Med Genet. 2002; 110:308–314.
Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004; 36:411–416.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, et al.; DDD Study. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet. 2019; 138:1051–1069.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–424.
Surapornsawasd T, Ogawa T, Tsuji M, Moriyama K. Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. J Hum Genet. 2014; 59:314–320.
Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, et al. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. J Obstet Gynaecol Res. 2013; 39:1545–1547.
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018; 46:D1062–D1067.
Tanaka T, Nakajima-Takagi Y, Aoyama K, Tara S, Oshima M, Saraya A, et al. Internal deletion of BCOR reveals a tumor suppressor function for BCOR in T lymphocyte malignancies. JEM. 2017; 216:2901.
Zhu X, Dai FR, Wang J, Zhang Y, Tan ZP, Zhang Y. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome. Gene. 2015; 571:142–144.
Substance Nomenclature:: 0 (BCOR protein, human)
0 (Proto-Oncogene Proteins)
0 (Repressor Proteins)
Entry Date(s):: Date Created: 20201124 Date Completed: 20211224 Latest Revision: 20211224
Update Code:: 20240105
DOI:: 10.1097/MCD.0000000000000359
PMID:: 33229924
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