Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1081-1086, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-922002
ABSTRACT
OBJECTIVE@#To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling.@*METHODS@#Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS), the result was verified with Sanger sequencing.@*RESULTS@#A BTK c.1627T>C (p.Ser543Pro) variant was found in the pedigree. The phenotype and variant have co-segregated in the pedigree. The variant was not found in population database. The variant has affected in the kinase domain which contained no benign variants and is harmful as predicted through bioinformatic analysis.@*CONCLUSION@#BTK c.1627T>C (p.Ser543Pro) is a pathogenic variant contributing to X-linked agammaglobulinemia in this pedigree. Above finding has provided reproduction guidance for this family.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Análisis Mutacional de ADN
/
Agammaglobulinemia
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Agammaglobulinemia Tirosina Quinasa
/
Mutación
Tipo de estudio:
Guía de Práctica Clínica
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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