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Abstract：
OBJECTIVE: To explore the genetic bias in a Chinese family suspected of having congenital nephrotic syndrome of the Finnish type (CNF).
METHODS: We developed a prenatal genetic diagnosis in a Chinese family with CNF. A single heterozygous mutation (c.3213delG) was found in the foetus IId and we presumed that it was an asymptomatic carrier of the normal phenotype. Additionally, two compound heterozygous variants (c.3213delG and c.3478C > T) were discovered in the foetus IIe, which were inherited from the mother and father, respectively. We performed further pathological examinations after medical abortion. Kidney histopathology and immunofluorescence results were similar to those reported in previous studies.
CONCLUSIONS: Prenatal genetic diagnosis of CNF still requires further research to explore the pathogenicity of suspected mutations.
METHODS: We developed a prenatal genetic diagnosis in a Chinese family with CNF. A single heterozygous mutation (c.3213delG) was found in the foetus IId and we presumed that it was an asymptomatic carrier of the normal phenotype. Additionally, two compound heterozygous variants (c.3213delG and c.3478C > T) were discovered in the foetus IIe, which were inherited from the mother and father, respectively. We performed further pathological examinations after medical abortion. Kidney histopathology and immunofluorescence results were similar to those reported in previous studies.
CONCLUSIONS: Prenatal genetic diagnosis of CNF still requires further research to explore the pathogenicity of suspected mutations.
摘要：
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