Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 31-35, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-970873
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a Chinese pedigree affected with pseudohypoparathyroidism.@*METHODS@#Peripheral blood samples of the proband and his parents were collected and subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified among the pedigree and 50 randomly selected healthy individuals through analysis of restriction fragment length polymorphism. Short tandem repeat (STR) linkage analysis was used to verify the parental origin of the pathogenic variants.@*RESULTS@#Trio-WES and Sanger sequencing showed that the proband and his mother had both harbored a c.121C>G (p.His41Asp) variant of the GNAS gene, which was not found in other family members and the 50 healthy controls. The variant was not found in international databases. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic.@*CONCLUSION@#The novel c.121C>G variant of the GNAS gene probably underlay the disease in this pedigree. Above finding has enriched the spectrum of GNAS gene variants.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Seudohipoparatiroidismo
/
China
/
Cromograninas
/
Subunidades alfa de la Proteína de Unión al GTP Gs
/
Secuenciación del Exoma
/
Pueblos del Este de Asia
/
Madres
/
Mutación
Límite:
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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