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Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Bodle, Ethan E; Zhu, Wenmiao; Velez-Bartolomei, Frances; Tesi-Rocha, Ana; Liu, Pengfei; Bernstein, Jonathan A.
Afiliação
  • Bodle EE; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California. Electronic address: Ethan.E.Bodle@kp.org.
  • Zhu W; Baylor Genetics, Houston, Texas.
  • Velez-Bartolomei F; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Tesi-Rocha A; Department of Neurology, Stanford University School of Medicine, Stanford, California.
  • Liu P; Baylor Genetics, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bernstein JA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
Pediatr Neurol ; 114: 16-20, 2020 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-33189025
ABSTRACT

BACKGROUND:

Pathogenic variants in the IGHMBP2 gene cause recessive spinal motor neuropathies of variable phenotype, including a predominantly distal motor impairment of Charcot-Marie-Tooth type 2S and the more severe condition of spinal muscular atrophy with respiratory distress type 1 in which infantile respiratory failure predominates.

METHODS:

We describe the first reported case of spinal muscular atrophy with respiratory distress type 1 caused by a novel deep intronic variant in IGHMBP2 (NM_002180c.712-610A>G).

RESULTS:

The variant was detected by whole genome sequencing. Reverse transcription-polymerase chain reaction and complimentary DNA sequencing were used to characterize the impact of the novel variant.

CONCLUSIONS:

This report illustrates the utility in clinical practice of genome sequencing and RNA analysis, compared with exome sequencing alone.
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Idioma: Inglês Revista: Pediatr Neurol Assunto da revista: Neurologia / Pediatria Ano de publicação: 2020 Tipo de documento: Artigo

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Idioma: Inglês Revista: Pediatr Neurol Assunto da revista: Neurologia / Pediatria Ano de publicação: 2020 Tipo de documento: Artigo