Parental expression is overvalued in the interpretation of rare inherited variants

European Journal of Human Genetics

Volumn 23, Issue 1, 2015, Pages 4-7

  Costain, Gregory ^a  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BAYES THEOREM; CHROMOSOME DELETION 22Q11; COPY NUMBER VARIATION; HUMAN; LETTER; PARENT; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; REPRODUCTIVE FITNESS; SCHIZOPHRENIA; BIOLOGICAL MODEL; DIGEORGE SYNDROME; GENETIC DISORDER; GENETICS; PENETRANCE; RESEARCH;

BAYES THEOREM; DIGEORGE SYNDROME; DNA COPY NUMBER VARIATIONS; GENETIC DISEASES, INBORN; HUMANS; MODELS, GENETIC; PENETRANCE; RESEARCH; SCHIZOPHRENIA;

EID: 84927022057     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.64     Document Type: Letter

References (14)

1. Miller DT, Adam MP, Aradhya S et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
2. Coughlin 2nd CR, Scharer GH, Shaikh TH: Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med 2012; 4: 80.
3. Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST: American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011; 13: 680-685.
4. Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G et al: Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet 2012; 20: 161-165.
5. Lee C, Scherer SW: The clinical context of copy number variation in the human genome. Expert Rev Mol Med 2010; 12: e8.
6. Costain G, Chow EW, Silversides CK, Bassett AS: Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet 2011; 48: 819-824.
7. Fung WL, McEvilly R, Fong J, Silversides CK, Chow EWC, Bassett AS: Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. Am J Psychiatry 2010; 167: 998.
8. Cohen E, Chow EW, Weksberg R, Bassett AS: Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet 1999; 86: 359-365.
9. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A et al: Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001; 3: 23-29.
10. Dolcetti A, Silversides CK, Marshall CR et al: 1q21.1 Microduplication expression in adults. Genet Med 2013; 15: 282-289.
11. Cooper GM, Coe BP, Girirajan S et al: A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43: 838-846.
12. Wapner RJ, Martin CL, Levy B et al: Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367: 2175-2184.
13. Jones MB, Szatmari P: Stoppage rules and genetic studies of autism. J Autism Dev Disord 1988; 18: 31-40.
14. Vermeesch JR, Balikova I, Schrander-Stumpel C, Fryns JP, Devriendt K: The causality of de novo copy number variants is overestimated. Eur J Hum Genet 2011; 19: 1112-1113.