Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example

Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27.

Authors

María Palomares-Bralo^{1

2}, Elena Vallespín^{1

2}, Ángela Del Pozo^{1

2}, Kristina Ibañez^{1

2}, Juan Carlos Silla^{1

2}, Enrique Galán^{2

3}, Gema Gordo^{1

2}, Víctor Martínez-Glez^{1

2}, Lázaro I Alba-Valdivia¹, Karen E Heath^{1

2}, Sixto García-Miñaúr^{1

2}, Pablo Lapunzina^{1

2}, Fernando Santos-Simarro^{1

2}

Affiliations

¹ Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.
² CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
³ Departamento de Pediatria, Hospital Materno Infantil, Badajoz, Spain.

PMID: 28640240
DOI: 10.1038/gim.2017.42

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Exome Sequencing* / methods
Exome*
Female
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / genetics*
Genetic Testing* / methods
Genomic Imprinting
Genotype
Humans
Male
Mosaicism
Mutation
Parents
Phenotype
Proteins / genetics

Substances

MAGEL2 protein, human
Proteins