Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 401-404, 2022.
Article
en Zh
| WPRIM
| ID: wpr-928428
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.@*METHODS@#Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo.@*CONCLUSION@#The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Ano Imperforado
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Pulgar
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Factores de Transcripción
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Anomalías Múltiples
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Insuficiencia Renal
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Pérdida Auditiva Sensorineural
Límite:
Child
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Año:
2022
Tipo del documento:
Article