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[Clinical and molecular genetic analysis of a patient with 3-M syndrome]
Yanru Huang1, Libin Mei, Jian Zhang
1Laboratory of Genetic Center, Xiamen Maternal and Child Health Care Hospital, Women and Children's Hospital Affiliated to Xiamen University, Xiamen, Fujian 361003, China. meilibinxm@163.com.
Objective:
To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.
Methods:
After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification.
Results:
A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously.
Conclusion:
Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.
Insights
This study identifies a pathogenic OBSL1 gene variant (c.458dupG) in a patient with 3-M syndrome. Spina bifida occulta and lower eyelid fat pad may be characteristic phenotypes of this genetic variant.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Medicine
Background:
- 3-M syndrome (Miller McKusick Malvaux) is a rare genetic disorder characterized by pre- and postnatal growth retardation.
- Understanding the molecular genetic basis and genotype-phenotype correlations is crucial for diagnosis and management.
Observation:
- A consanguineous family with a patient diagnosed with 3-M syndrome was investigated.
- Chromosome microarray and exome sequencing were performed on the proband and her parents.
Findings:
- A homozygous pathogenic variant (c.458dupG) in the OBSL1 gene was identified in the proband, inherited from her parents.
- This variant was classified as pathogenic (PVS1+PM2+PP4) according to ACMG guidelines.
- Spina bifida occulta and a lower eyelid fat pad were observed clinical features.
Implications:
- The findings suggest that spina bifida occulta and lower eyelid fat pad may represent specific phenotypes associated with the c.458dupG OBSL1 variant.
- This study contributes to understanding the genotype-phenotype relationship in 3-M syndrome type 2, aiding future clinical evaluations.
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