Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome
Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We de...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2024/8860889 |
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| author | Kyriaki Papadopoulou-Legbelou Maria Ntoumpara Maria Kavga Eleni P. Kotanidou Ioannis Papoulidis Assimina Galli-Tsinopoulou Maria Fotoulaki |
| author_facet | Kyriaki Papadopoulou-Legbelou Maria Ntoumpara Maria Kavga Eleni P. Kotanidou Ioannis Papoulidis Assimina Galli-Tsinopoulou Maria Fotoulaki |
| author_sort | Kyriaki Papadopoulou-Legbelou |
| collection | DOAJ |
| description | Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative. |
| format | Article |
| id | doaj-art-78b66acf333c43c6808ec5ba2ee033a3 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-78b66acf333c43c6808ec5ba2ee033a32025-02-03T05:57:02ZengWileyCase Reports in Genetics2090-65522024-01-01202410.1155/2024/8860889Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia SyndromeKyriaki Papadopoulou-Legbelou0Maria Ntoumpara1Maria Kavga2Eleni P. Kotanidou3Ioannis Papoulidis4Assimina Galli-Tsinopoulou5Maria Fotoulaki64th Department of Pediatrics4th Department of Pediatrics4th Department of PediatricsUnit of Pediatric Endocrinology and MetabolismAccess to Genome P.CUnit of Pediatric Endocrinology and Metabolism4th Department of PediatricsDilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative.http://dx.doi.org/10.1155/2024/8860889 |
| spellingShingle | Kyriaki Papadopoulou-Legbelou Maria Ntoumpara Maria Kavga Eleni P. Kotanidou Ioannis Papoulidis Assimina Galli-Tsinopoulou Maria Fotoulaki Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome Case Reports in Genetics |
| title | Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome |
| title_full | Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome |
| title_fullStr | Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome |
| title_full_unstemmed | Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome |
| title_short | Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome |
| title_sort | genital abnormalities and growth retardation as early signs of dilated cardiomyopathy with ataxia syndrome |
| url | http://dx.doi.org/10.1155/2024/8860889 |
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