Identification of LINS1 gene variant in a patient with severe mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 57-59, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-781294
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with idiopathic mental retardation.@*METHODS@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*RESULTS@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*CONCLUSION@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteínas
/
Hibridização Genômica Comparativa
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Homozigoto
/
Deficiência Intelectual
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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