Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

doi:10.1002/ajmg.a.37649

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Article

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

American journal of medical genetics. Part A - 1 Jul 2016

Giorgio Elisa, Ciolfi Andrea, Biamino Elisa, Caputo Viviana, Di Gregorio Eleonora, Belligni Elga Fabia, Calcia Alessandro, Gaidolfi Elena, Bruselles Alessandro, Mancini Cecilia, Cavalieri Simona, Molinatto Cristina, Cirillo Silengo Margherita, Ferrero Giovanni Battista, Tartaglia Marco, Brusco Alfredo

Abstract excerpt

Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with syndromic ID/DD for whom array-Comparative Genomic Hybridization (aCGH) identified a de novo copy number variant (CNV) of uncertain significance. The phenotypes...

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PMID: 27108886
DOI: 10.1002/ajmg.a.37649

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VLDLR
TRAPPC9

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