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[Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia]
Hongyan Liu1, Tao Li, Hongdan Wang
1Institute of Medical Genetics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China.
Insights
A novel MYH9 gene mutation, c.4270G>A (p.Aspl841Asn), was identified in a Chinese family with MYH9-related thrombocytopenia. This mutation is linked to varied clinical symptoms including hearing loss and kidney issues.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- MYH9-related inherited thrombocytopenia is a heterogeneous disorder.
- Genetic analysis is crucial for understanding its diverse clinical presentations.
Purpose of the Study:
- To investigate the clinical features and MYH9 gene mutations in a large Chinese family with MYH9-related thrombocytopenia.
- To establish genotype-phenotype correlations within the family.
Main Methods:
- Clinical examinations and family history collection from 29 members.
- DNA extraction, PCR amplification, and Sanger sequencing of the MYH9 gene.
- Comparison of identified sequences with the UCSC reference sequence.
Main Results:
- Heterogeneous clinical manifestations observed, including hearing loss, nephritis, and mild bleeding.
- A heterozygous missense mutation c.4270G>A (p.Aspl841Asn) in MYH9 exon 30 was identified in all affected individuals.
- The mutation co-segregated with the observed phenotypes, confirming its association.
Conclusions:
- The missense mutation c.4270G>A (p.Aspl841Asn) in the MYH9 gene is associated with MYH9-related thrombocytopenia in this Chinese family.
- Genotype-phenotype variability highlights the complexity of MYH9-related disorders.
Objective:
To analyze the clinical manifestations and mutation of MYH9 gene in a large Chinese family affected with MYH9-related thrombocytopenia.
Methods:
After informed consent was obtained; clinical examination and history investigation was performed on 29 members of the family. DNA was extracted using a standard method, then exons 1 to 40 and their corresponding exon-intron junctions of the MYH9 gene were amplified with PCR and subjected to Sanger sequencing. The results were compared to reference sequence from the University of California, Santa Cruz (UCSC) to screen the mutation. PCR and Sanger sequencing was performed on genome DNA of all family members to confirm the identified mutation.
Results:
The clinical manifestations of family members were prominently heterogeneous. Four affected members showed hearing loss or deafness, two affected members showed nephritis or kidney failure, and other affected members was only characterized by mild bleeding or with no obvious symptoms. A heterozygous missense mutation c.4270G>A (p.Aspl841Asn) in exon 30 of the MYH9 gene was identified in all affected members from this family, which also co-segregated with the phenotype.
Conclusion:
A missense mutation c.4270G>A (p.Aspl841Asn) within the exon 30 of the MYH9 gene was identified to be associated with MYH9-related thrombocytopenia in a Chinese family.
