Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Theunissen, Tom E J; Sallevelt, Suzanne C E H; Hellebrekers, Debby M E I; de Koning, Bart; Hendrickx, Alexandra T M; van den Bosch, Bianca J C; Kamps, Rick; Schoonderwoerd, Kees; Szklarczyk, Radek; Mulder-Den Hartog, Elvira N M; de Coo, Irenaeus F M; Smeets, Hubert J M

Theunissen, Tom E J; Sallevelt, Suzanne C E H; Hellebrekers, Debby M E I; de Koning, Bart; Hendrickx, Alexandra T M; van den Bosch, Bianca J C; Kamps, Rick; Schoonderwoerd, Kees; Szklarczyk, Radek; Mulder-Den Hartog, Elvira N M; de Coo, Irenaeus F M; Smeets, Hubert J M.

Afiliação

Theunissen TEJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
van den Bosch BJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Schoonderwoerd K; Department of Clinical Genetics, Erasmus Medical Centre (MC), Rotterdam, The Netherlands.
Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Mulder-Den Hartog ENM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
de Coo IFM; Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
Smeets HJM; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address: bert.smeets@maastrichtuni

J Pediatr ; 182: 371-374.e2, 2017 03.

Article em En | MEDLINE | ID: mdl-28081892

RESUMO

Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all symptoms, but manifestations were overlapping (blended phenotype). Two gene defects in the second patient explained nonoverlapping symptoms (composite phenotype). Whole-exome sequencing rapidly and comprehensively resolves heterogeneous genetic disease.

Assuntos

Anormalidades Congênitas/genética; Doenças Genéticas Inatas/diagnóstico; Mutação; Análise de Sequência de DNA/métodos; Amidoidrolases/genética; Hidrolases de Éster Carboxílico/genética; Anormalidades Congênitas/diagnóstico; Exoma/genética; Testes Genéticos/métodos; Genômica; Genótipo; Humanos; Lactente; Proteínas de Membrana/genética; Proteínas Associadas aos Microtúbulos; Testes de Mutagenicidade; Fenótipo; Receptores de Peptídeos/genética; Sensibilidade e Especificidade; Índice de Gravidade de Doença

Palavras-chave

complex disease; genetic diagnosis; phenotypic characterization

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Análise de Sequência de DNA / Doenças Genéticas Inatas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Infant Idioma: En Revista: J Pediatr Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos

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