Clinical phenotype and genotype analysis of the family with the Usher syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 431-433, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-828308
ABSTRACT
OBJECTIVE@#To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation.@*METHODS@#Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal.@*CONCLUSION@#The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Pedigree
/
Phenotype
/
Genetic Variation
/
Night Blindness
/
Usher Syndromes
/
High-Throughput Nucleotide Sequencing
/
Myosin VIIa
/
Genetics
/
Genotype
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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