Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1403-1406, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-879510
ABSTRACT
OBJECTIVE@#To explore the pathogenesis for a SRY-negative male with 46,XX disorder of sex development (DSD).@*METHODS@#Peripheral blood samples of the patient and his family members were subjected to chromosomal karyotyping, routine PCR, real-time fluorescence quantitative PCR, whole exome sequencing and whole genome sequencing. The data was analyzed with NextGENe software.@*RESULTS@#Both the proband and his brother presented a 46,XX karyotype with negative SRY gene, while their father presented normal phenotype and karyotype with positive SRY gene. No pathogenic variant associated with sex development was detected by whole exome sequencing, while a 243 kb duplication was detected by whole genome sequencing in the 5' upstream region of the SOX9 gene in the proband, his brother and father. The same duplication was not found in his sister and mother.@*CONCLUSION@#The 243 kb duplication at the 5' upstream of the SOX9 gene may predispose to the 46,XX DSD in this family. It is speculated that there exist an unknown core regulatory element in the upstream of the SOX9, and its duplication may trigger expression of SOX9 and initiate testicular differentiation in the absence of SRY gene.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trastornos del Desarrollo Sexual
/
Testículo
/
Secuencias Reguladoras de Ácidos Nucleicos
/
Proteína de la Región Y Determinante del Sexo
/
Secuenciación del Exoma
/
Mutación
Tipo de estudio:
Estudio de etiología
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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