Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 458-460, 2021.
Article
en Zh
| WPRIM
| ID: wpr-879602
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with primary ciliary dyskinesia (PCD).@*METHODS@#High-throughput sequencing and bioinformatic analysis were carried out to identify pathogenic variant in the patient. Suspected variant was verified by Sanger sequencing among the family members, and intracytoplasmic sperm injection (ICSI) was used to achieve the pregnancy.@*RESULTS@#The patient had obstructive azoospermia, measurement of nasal NO exhalation at 84 ppb, and typical symptoms of PCD in nasal sinuses and lungs. DNA sequencing showed that he had carried biallelic variants of the DNAH5 gene, namely c.1489C>T (p.Q497X) in exon 11 and c.6304C>T (p.R2102C) in exon 38. His wife achieved clinical pregnancy with the assistance of ICSI.@*CONCLUSION@#Above finding has enriched the spectrum of DNAH5 gene variants, though the latters did not affect the outcome of pregnancy by ICSI.
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Índice:
WPRIM
Asunto principal:
Síndrome de Kartagener
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Exones
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Análisis de Secuencia de ADN
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Inyecciones de Esperma Intracitoplasmáticas
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Dineínas Axonemales
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Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Article