[Clinical and genetic analysis of a child with X-linked dominant Alport syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(10): 1270-1274, 2023 Oct 10.
Article
en Zh
| MEDLINE
| ID: mdl-37730229
ABSTRACT
OBJECTIVE:
To investigate the clinical features and genetic variant of a child with X-linked dominant Alport syndrome (XLAS).METHODS:
A child who had presented at the First Affiliated Hospital of Zhengzhou University in May 2019 was selected as the study subject. Clinical data of the child was collected. Next generation sequencing (NGS) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members.RESULTS:
The child, a 12-year-old boy, had mainly manifested gross hematuria, proteinuria, nephrotic syndrome, and progressive renal impairment in conjunct with hearing loss. Kidney biopsy has revealed uneven glomerular basement membrane thickness. DNA sequencing revealed that the child and his mother have both carried a heterozygous c.2632G>A (p.G878R) variant of the COL4A5 gene, for which his father and brother were of the wild type. This variant was unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PS1+PM1+PM2_Supporting+PP3).CONCLUSION:
The maternally derived hemizygous c.2632G>A (p.G878R) variant of the COL4A5 gene probably underlay the XLAS in this child. Above finding has enriched the mutational spectrum of the COL4A5 gene.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sordera
/
Nefritis Hereditaria
Tipo de estudio:
Guideline
Límite:
Child
/
Female
/
Humans
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Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
CHINA
/
CN
/
REPUBLIC OF CHINA