Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect
Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/259627 |
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| author | Hatice Mutlu-Albayrak Judit Bene Mehmet Burhan Oflaz Tijen Tanyalçın Hüseyin Çaksen Bela Melegh |
| author_facet | Hatice Mutlu-Albayrak Judit Bene Mehmet Burhan Oflaz Tijen Tanyalçın Hüseyin Çaksen Bela Melegh |
| author_sort | Hatice Mutlu-Albayrak |
| collection | DOAJ |
| description | Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature. |
| format | Article |
| id | doaj-art-9fa680121fd544df9b528b332b2556c3 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9fa680121fd544df9b528b332b2556c32025-08-20T03:38:27ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/259627259627Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake DefectHatice Mutlu-Albayrak0Judit Bene1Mehmet Burhan Oflaz2Tijen Tanyalçın3Hüseyin Çaksen4Bela Melegh5Division of Pediatric Genetics, Department of Pediatrics, Meram Medical Faculty, University of Necmettin Erbakan, Meram, 42080 Konya, TurkeyDepartment of Medical Genetics, University of Pécs, Pécs, HungaryDivision of Pediatric Cardiology, Department of Pediatrics, Meram Medical Faculty, University of Necmettin Erbakan, Meram, 42080 Konya, TurkeyTanyalcin Medical Laboratory, Selective Screening and Metabolism Unit, Izmir, TurkeyDivision of Pediatric Genetics, Department of Pediatrics, Meram Medical Faculty, University of Necmettin Erbakan, Meram, 42080 Konya, TurkeyDepartment of Medical Genetics, University of Pécs, Pécs, HungaryPrimary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9-year-old boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis was compatible with carnitine uptake defect (CUD). His sister had died due to sudden infant death at 19 months. His second 4-year-old sister’s echocardiographic examination revealed hypertrophic cardiomyopathy, also suffering from easy fatigability. Her tandem MS spectrometry analyses resulted in CUD. We sequenced all the exons of the SLC22A5 gene encoding the high affinity carnitine transporter OCTN2 in the DNA. And one new mutation (c.1427T>G → p.Leu476Arg) was found in the boy and his sister in homozygous form, leading to the synthesis of an altered protein which causes CUD. The parent’s molecular diagnosis supported the carrier status. In order to explore the genetic background of the patient’s dysmorphic appearance, an array-CGH analysis was performed that revealed nine copy number variations only. Here we report a novel SLC22A5 mutation with the novel hallmark of its association with dysmorphologic feature.http://dx.doi.org/10.1155/2015/259627 |
| spellingShingle | Hatice Mutlu-Albayrak Judit Bene Mehmet Burhan Oflaz Tijen Tanyalçın Hüseyin Çaksen Bela Melegh Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect Case Reports in Genetics |
| title | Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect |
| title_full | Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect |
| title_fullStr | Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect |
| title_full_unstemmed | Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect |
| title_short | Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect |
| title_sort | identification of slc22a5 gene mutation in a family with carnitine uptake defect |
| url | http://dx.doi.org/10.1155/2015/259627 |
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