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Pediatr Neurol ; 114: 16-20, 2020 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-33189025

RESUMO

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.

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