Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism
Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a mu...
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| Format: | Article |
| Language: | English |
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Federação Brasileira das Sociedades de Ginecologia e Obstetrícia
2018-09-01
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| Series: | Revista Brasileira de Ginecologia e Obstetrícia |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570&tlng=en |
| _version_ | 1818743768693604352 |
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| author | Joanna Goes Castro Meira Manoel Alfredo Curvelo Sarno Ágatha Cristhina Oliveira Faria Guilherme Lopes Yamamoto Débora Romeo Bertola Gabriela Gayer Scheibler Dione Fernandes Tavares Angelina Xavier Acosta |
| author_facet | Joanna Goes Castro Meira Manoel Alfredo Curvelo Sarno Ágatha Cristhina Oliveira Faria Guilherme Lopes Yamamoto Débora Romeo Bertola Gabriela Gayer Scheibler Dione Fernandes Tavares Angelina Xavier Acosta |
| author_sort | Joanna Goes Castro Meira |
| collection | DOAJ |
| description | Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ~ 20% of the evaluated cells and, therefore, confirming the diagnosis ofmosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available. |
| first_indexed | 2024-12-18T02:33:40Z |
| format | Article |
| id | doaj.art-fb7cd6eb064d4cb3b9930ada56225ccb |
| institution | Directory Open Access Journal |
| issn | 0100-7203 |
| language | English |
| last_indexed | 2024-12-18T02:33:40Z |
| publishDate | 2018-09-01 |
| publisher | Federação Brasileira das Sociedades de Ginecologia e Obstetrícia |
| record_format | Article |
| series | Revista Brasileira de Ginecologia e Obstetrícia |
| spelling | doaj.art-fb7cd6eb064d4cb3b9930ada56225ccb2022-12-21T21:23:50ZengFederação Brasileira das Sociedades de Ginecologia e ObstetríciaRevista Brasileira de Ginecologia e Obstetrícia0100-72032018-09-0140957057510.1055/s-0038-1670684Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with MosaicismJoanna Goes Castro MeiraManoel Alfredo Curvelo SarnoÁgatha Cristhina Oliveira FariaGuilherme Lopes YamamotoDébora Romeo BertolaGabriela Gayer ScheiblerDione Fernandes TavaresAngelina Xavier AcostaAbstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ~ 20% of the evaluated cells and, therefore, confirming the diagnosis ofmosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570&tlng=enatelosteogenesissomatic mosaicismskeletal dysplasiaFLNBexome-target sequencingfetal ultrasonography |
| spellingShingle | Joanna Goes Castro Meira Manoel Alfredo Curvelo Sarno Ágatha Cristhina Oliveira Faria Guilherme Lopes Yamamoto Débora Romeo Bertola Gabriela Gayer Scheibler Dione Fernandes Tavares Angelina Xavier Acosta Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism Revista Brasileira de Ginecologia e Obstetrícia atelosteogenesis somatic mosaicism skeletal dysplasia FLNB exome-target sequencing fetal ultrasonography |
| title | Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism |
| title_full | Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism |
| title_fullStr | Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism |
| title_full_unstemmed | Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism |
| title_short | Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism |
| title_sort | diagnosis of atelosteogenesis type i suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism |
| topic | atelosteogenesis somatic mosaicism skeletal dysplasia FLNB exome-target sequencing fetal ultrasonography |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570&tlng=en |
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