Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 35-38, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-928356
ABSTRACT
OBJECTIVE@#To investigate the clinical characteristics and genetic basis for a child with Keppen-Lubinsky syndrome (KPLBS).@*METHODS@#Trio-whole exome sequencing (Trio-WES) was carried out for the proband and her parents. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child has featured peculiar facies including large eyes, alar hypoplasia, microretrognathia, premature aging appearance in addition with growth delay and mental retardation. Trio-WES has identified that she has carried a de novo variant of the KCNJ6 gene, namely c.460G>C (p.Gly154Arg). The variant has not been recorded in the database. Prediction of protein structure indicated that the variant may affect the potassium ion selective filtration structure channel in the transmembrane region of KCNJ6 protein, which may result in up regulation of the function of the channel.@*CONCLUSION@#The de novo c.460G>C (p.Gly154Arg) variant of the KCNJ6 gene probably underlay the KPLBS in this child. Above finding has enriched the genotypic and phenotype spectrum of this syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Catarata
/
China
/
Canales de Potasio Rectificados Internamente Asociados a la Proteína G
/
Secuenciación del Exoma
/
Hipogonadismo
/
Discapacidad Intelectual
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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