A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype
Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the <i>ADA2/CECR1</i> gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at...
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MDPI AG
2021-08-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/15/8331 |
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| author | Silvia Vai Erika Marin Roberta Cosso Francesco Saettini Sonia Bonanomi Alessandro Cattoni Iacopo Chiodini Luca Persani Alberto Falchetti |
| author_facet | Silvia Vai Erika Marin Roberta Cosso Francesco Saettini Sonia Bonanomi Alessandro Cattoni Iacopo Chiodini Luca Persani Alberto Falchetti |
| author_sort | Silvia Vai |
| collection | DOAJ |
| description | Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the <i>ADA2/CECR1</i> gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early childhood age. DADA2 syndrome encompasses pleiotropic manifestations such as stroke, systemic vasculitis, hematologic alterations, and immunodeficiency. Although skeletal abnormalities have been reported in patients with this disease, clear information about skeletal health, with appropriate biochemical-clinical characterization/management, its evolution over time and any appropriate clinical management is still insufficient. In this paper, after a general introduction shortly reviewing the pathophysiology of Ada2 enzymatic protein, its potential role in bone health, we describe a case study of two 27 year-old DADA2 monozygotic female twins exhibiting bone mineral density and bone turnover rate abnormalities over the years of their clinical follow-up. |
| first_indexed | 2024-03-10T09:13:57Z |
| format | Article |
| id | doaj.art-561562cbd27d4533911a770e01a84514 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T09:13:57Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-561562cbd27d4533911a770e01a845142023-11-22T05:46:51ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-08-012215833110.3390/ijms22158331A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related PhenotypeSilvia Vai0Erika Marin1Roberta Cosso2Francesco Saettini3Sonia Bonanomi4Alessandro Cattoni5Iacopo Chiodini6Luca Persani7Alberto Falchetti8Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, ItalyDepartment of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, ItalyIRCCS, Istituto Auxologico Italiano, San Giuseppe Hospital, 28824 Verbania, ItalyDepartment of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, ItalyDepartment of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, ItalyDepartment of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, ItalyDepartment of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, ItalyDepartment of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, ItalyDepartment of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, ItalyAdenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the <i>ADA2/CECR1</i> gene. It consists of an immune systemic disease including autoinflammatory vasculopathies, with a frequent onset at infancy/early childhood age. DADA2 syndrome encompasses pleiotropic manifestations such as stroke, systemic vasculitis, hematologic alterations, and immunodeficiency. Although skeletal abnormalities have been reported in patients with this disease, clear information about skeletal health, with appropriate biochemical-clinical characterization/management, its evolution over time and any appropriate clinical management is still insufficient. In this paper, after a general introduction shortly reviewing the pathophysiology of Ada2 enzymatic protein, its potential role in bone health, we describe a case study of two 27 year-old DADA2 monozygotic female twins exhibiting bone mineral density and bone turnover rate abnormalities over the years of their clinical follow-up.https://www.mdpi.com/1422-0067/22/15/8331rare diseasesDADA2 syndrome<i>ADA2/CECR1</i> genebone metabolismDXA analysisbone health |
| spellingShingle | Silvia Vai Erika Marin Roberta Cosso Francesco Saettini Sonia Bonanomi Alessandro Cattoni Iacopo Chiodini Luca Persani Alberto Falchetti A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype International Journal of Molecular Sciences rare diseases DADA2 syndrome <i>ADA2/CECR1</i> gene bone metabolism DXA analysis bone health |
| title | A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype |
| title_full | A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype |
| title_fullStr | A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype |
| title_full_unstemmed | A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype |
| title_short | A Novel Germline Mutation of <i>ADA2</i> Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype |
| title_sort | novel germline mutation of i ada2 i gene in two discordant homozygous female twins affected by adenosine deaminase 2 deficiency description of the bone related phenotype |
| topic | rare diseases DADA2 syndrome <i>ADA2/CECR1</i> gene bone metabolism DXA analysis bone health |
| url | https://www.mdpi.com/1422-0067/22/15/8331 |
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