Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in <i>HSD17B4</i> resulting in D-bifunctional protein deficiency disorder diagnosis.

Savage, Lane; Adams, Stacie D; James, Kiely; Chowdhury, Shimul; Rajasekaran, Surender; Prokop, Jeremy W; Bupp, Caleb

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.

Savage, Lane; Adams, Stacie D; James, Kiely; Chowdhury, Shimul; Rajasekaran, Surender; Prokop, Jeremy W; Bupp, Caleb.

Afiliação

Savage L; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.
Adams SD; Department of Pharmacology and Toxicology, Michigan State University, East Lansing, Michigan 48824, USA.
James K; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.
Chowdhury S; Spectrum Health/Helen DeVos Children's Hospital Medical Genetics, Grand Rapids, Michigan 49503, USA.
Rajasekaran S; Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Prokop JW; Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Bupp C; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan 49503, USA.

Cold Spring Harb Mol Case Stud ; 6(6)2020 12.

Article em En | MEDLINE | ID: mdl-33115767

Assuntos

Homozigoto; Proteína Multifuncional do Peroxissomo-2/deficiência; Proteína Multifuncional do Peroxissomo-2/genética; Deficiência de Proteína/genética; Sequenciamento Completo do Genoma; Ácidos Graxos; Feminino; Predisposição Genética para Doença/genética; Humanos; Lactente; Modelos Moleculares; Hipotonia Muscular; Patologia Molecular/métodos; Proteína Multifuncional do Peroxissomo-2/química; Conformação Proteica

Palavras-chave

generalized neonatal hypotonia; infantile spasms; respiratory difficulties; respiratory insufficiency due to muscle weakness; very long chain fatty acid accumulation

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Proteína / Proteína Multifuncional do Peroxissomo-2 / Sequenciamento Completo do Genoma / Homozigoto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Cold Spring Harb Mol Case Stud Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google