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Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus.
Genet Test Mol Biomarkers. 2010 Jan 10 [Online ahead of print]GT

Abstract

Aims:

Fibrodysplasia ossificans progressiva (FOP) is a rare and severely disabling autosomal dominant disorder characterized by congenital malformations of the great toes and progressive postnatal heterotopic ossification. A point mutation in the activin receptor IA (ACVR1) gene is the cause of FOP. Most of the reported cases of FOP are sporadic and caused by de novo mutations; however, some rare cases can also result from parental germline mosaicism associated with a greater risk of recurrence in successive pregnancies. Therefore, once the pathogenic mutation has been identified in the proband, it is relative cheaper and important to perform prenatal diagnostic tests to exclude the recurrence risk of FOP in subsequent pregnancies. In this study, we first investigated the mutation in the ACVR1 gene in a Chinese FOP patient and then performed prenatal tests to exclude the risk of recurrence in the patient's unborn sibling.

Methods:

A couple visited our clinic with their 4-year-old son, who was clinically diagnosed with FOP, for genetic counseling. Genetic testing was performed by amplifying all the nine exons of the ACVR1 gene using the conventional polymerase chain reaction. Further, DNA sequencing was used to determine the mutation based on the results of a mutation screening using denaturing high-performance liquid chromatography. Subsequently, a prenatal test was performed using the same technique as that used for the proband.

Results:

A recurrent single nucleotide mutation c.617 G>A (R206H) of the ACVR1 gene was identified in the patient; however, both the parents had a normal ACVR1 gene. Prenatal tests showed that the fetus did not carry the pathogenic mutation.

Conclusion:

The results confirmed that a recurrent single nucleotide mutation c.617 G>A (R206H) was the genetic cause of FOP and explored the utility of prenatal testing in excluding the risk of recurrence in the successive pregnancy.

Authors+Show Affiliations

Institute of Reproduction and Stem Cell Engineering, Central South University , Changsha, China .No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20059392

Citation

Du, Juan, et al. "Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus." Genetic Testing and Molecular Biomarkers, 2010.
Du J, Huang LL, Tan YQ, et al. Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus. Genet Test Mol Biomarkers. 2010.
Du, J., Huang, L. L., Tan, Y. Q., Cheng, D. H., Li, S. F., Li, L. Y., & Lu, G. X. (2010). Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus. Genetic Testing and Molecular Biomarkers.
Du J, et al. Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus. Genet Test Mol Biomarkers. 2010 Jan 10;. PubMed PMID: 20059392.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus. AU - Du,Juan, AU - Huang,Ling-Li, AU - Tan,Yue-Qiu, AU - Cheng,De-Hua, AU - Li,Shuang-Fei, AU - Li,Lu-Yun, AU - Lu,Guang-Xiu, Y1 - 2010/01/10/ PY - 2010/1/12/entrez PY - 2010/1/12/pubmed PY - 2010/1/12/medline SP - EP - JF - Genetic testing and molecular biomarkers JO - Genet Test Mol Biomarkers N2 - Aims: Fibrodysplasia ossificans progressiva (FOP) is a rare and severely disabling autosomal dominant disorder characterized by congenital malformations of the great toes and progressive postnatal heterotopic ossification. A point mutation in the activin receptor IA (ACVR1) gene is the cause of FOP. Most of the reported cases of FOP are sporadic and caused by de novo mutations; however, some rare cases can also result from parental germline mosaicism associated with a greater risk of recurrence in successive pregnancies. Therefore, once the pathogenic mutation has been identified in the proband, it is relative cheaper and important to perform prenatal diagnostic tests to exclude the recurrence risk of FOP in subsequent pregnancies. In this study, we first investigated the mutation in the ACVR1 gene in a Chinese FOP patient and then performed prenatal tests to exclude the risk of recurrence in the patient's unborn sibling. Methods: A couple visited our clinic with their 4-year-old son, who was clinically diagnosed with FOP, for genetic counseling. Genetic testing was performed by amplifying all the nine exons of the ACVR1 gene using the conventional polymerase chain reaction. Further, DNA sequencing was used to determine the mutation based on the results of a mutation screening using denaturing high-performance liquid chromatography. Subsequently, a prenatal test was performed using the same technique as that used for the proband. Results: A recurrent single nucleotide mutation c.617 G>A (R206H) of the ACVR1 gene was identified in the patient; however, both the parents had a normal ACVR1 gene. Prenatal tests showed that the fetus did not carry the pathogenic mutation. Conclusion: The results confirmed that a recurrent single nucleotide mutation c.617 G>A (R206H) was the genetic cause of FOP and explored the utility of prenatal testing in excluding the risk of recurrence in the successive pregnancy. SN - 1945-0257 UR - https://www.unboundmedicine.com/medline/citation/20059392/Mutation_Analysis_and_Prenatal_Exclusion_of_Fibrodysplasia_Ossificans_Progressiva_in_a_Chinese_Fetus_ L2 - https://www.liebertpub.com/doi/10.1089/gtmb.2009.0084?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -
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