Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 860-864, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-981837
ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS).@*METHODS@#A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing.@*RESULTS@#WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother.@*CONCLUSION@#The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.
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Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enanismo
/
Secuenciación del Exoma
/
Discapacidad Intelectual
/
Microcefalia
/
Madres
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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