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Feingold syndrome type 2 in a patient from China
Jie Lei1, Luhao Han1, Yanke Huang2
1Department of Clinical Laboratory, Shenzhen Nanshan Maternity and Child Healthcare Hospital, Shenzhen, China.
American Journal of Medical Genetics. Part A
|April 5, 2021
Summary
Feingold syndrome type 2, a rare genetic disorder, was identified in a Chinese patient with a novel microdeletion. This case expands understanding of genotype-phenotype correlations in FGLDS2.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Feingold syndrome type 2 (FGLDS2) is an exceptionally rare genetic disorder characterized by congenital malformations.
- It is caused by germline heterozygous deletions in the MIR17HG gene on chromosome 13q31.
- Fewer than 25 cases have been documented globally.
Observation:
- A 3-year-old Chinese girl presented with hip dysplasia, polysyndactyly, brachymesophalangy, microcephaly, intellectual disability, and growth delay.
- Genetic analysis revealed a de novo 4.8-Mb microdeletion at 13q31.3-q32.1, including MIR17HG, GPC5, and GPC6.
- Compound heterozygous variants in SLC26A4 and a novel heterozygous variant in COMP were also identified.
Findings:
- This represents the first reported case of Feingold syndrome type 2 in the Chinese population.
- The patient's phenotype is associated with a 13q31.3-q32.1 microdeletion and additional variants in SLC26A4 and COMP.
- Detailed analysis of these genetic variations provides insights into FGLDS2.
Implications:
- This case expands the known spectrum of Feingold syndrome type 2 and its genetic underpinnings.
- Understanding the genotype-phenotype relationship in FGLDS2 is crucial for accurate diagnosis and management.
- Further research into these genetic variants may improve diagnostic strategies for rare developmental disorders.
