Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Clinical Genetics

Volumn 86, Issue 6, 2014, Pages 595-597

  Baquero Montoya, C ^a   Gil Rodriguez M C ^a   Braunholz, D ^b   Teresa Rodrigo, M E ^a   Obieglo, C ^b   Gener, B ^c   Schwarzmayr, T ^d   Strom, T M ^e   Gomez Puertas P ^f   Puisac, B ^a   Gillessen Kaesbach, G ^b   Musio, A ^b   Ramos, F J ^a,g   Kaiser, F J ^b   Pie J ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b UNIVERSITY OF LÜBECK   (Germany)

^c BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^g CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NIPBL PROTEIN, HUMAN; PROTEIN;

ALLELE; DE LANGE SYNDROME; DNA SEQUENCE; EDITORIAL; EXOME; GENE; GENE AMPLIFICATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOSAICISM; NEXT GENERATION SEQUENCING; NIPBL GENE; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; SEQUENCE ANALYSIS; SOMATIC MOSAICISM; CASE REPORT; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PROCEDURES;

DE LANGE SYNDROME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MOSAICISM; MUTATION; PROTEINS;

EID: 84937512055     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12333     Document Type: Editorial

References (5)

1. Manini L, Cucco F, Quarantotti V, Krantz I.D, Musio A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange Syndrome. Hum Mutat 2013.
2. Rohlin A, Wernersson J, Engwall Y, Wiklund L, Bjork J, Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat 2009: 30: 1012-1020.
3. Huisman S, Redeker E, Maas S, Mannens M, Hennekam R. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 2013.
4. Castronovo P, Delahaye-Duriez A, Gervasini C et al. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet 2010: 78: 560-564.
5. Gervasini C, Parenti I, Picinelli C et al. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype. Eur J Med Genet 2013.