Genetic analysis of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1155-1159, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-1009268
ABSTRACT
OBJECTIVE@#To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS).@*METHODS@#A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents.@*RESULTS@#The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c.1375C>T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents.@*CONCLUSION@#The child was diagnosed with FSGSNEDS, for which the c.1375C>T variant of the TRIM8 gene may be accountable.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Glomerulosclerose Segmentar e Focal
/
Proteínas de Transporte
/
Genômica
/
Variações do Número de Cópias de DNA
/
Heterozigoto
/
Cariotipagem
/
Proteínas do Tecido Nervoso
Limite:
Criança
/
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS