Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray...
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2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/2706098 |
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| author | Kimia Najafi Roxana Kariminejad Kaveh Hosseini Azadeh Moshtagh Gole Maryam Abbassi Neda Sadatian Masood Bazrgar Ariana Kariminejad Mohamad Hassan Kariminejad |
| author_facet | Kimia Najafi Roxana Kariminejad Kaveh Hosseini Azadeh Moshtagh Gole Maryam Abbassi Neda Sadatian Masood Bazrgar Ariana Kariminejad Mohamad Hassan Kariminejad |
| author_sort | Kimia Najafi |
| collection | DOAJ |
| description | Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle. Both parents had normal phenotypes. OA-CGH was performed and a 436 Kb duplication was detected and the diagnosis of PMD was made. The mother was carrier of this 436 Kb duplication. Conclusion. Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions. However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array. |
| format | Article |
| id | doaj-art-2754fb432cfb4b61bc9d493154964087 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
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| series | Case Reports in Genetics |
| spelling | doaj-art-2754fb432cfb4b61bc9d4931549640872025-02-03T05:59:13ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/27060982706098Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype DiagnosisKimia Najafi0Roxana Kariminejad1Kaveh Hosseini2Azadeh Moshtagh3Gole Maryam Abbassi4Neda Sadatian5Masood Bazrgar6Ariana Kariminejad7Mohamad Hassan Kariminejad8Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranTehran Heart Center, Tehran University of Medical Sciences, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranKariminejad-Najmabadi Pathology and Genetics Center, Tehran, IranIntroduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly, nystagmus, and spastic paraplegia. Similar clinical findings were reported in his older brother and maternal uncle. Both parents had normal phenotypes. OA-CGH was performed and a 436 Kb duplication was detected and the diagnosis of PMD was made. The mother was carrier of this 436 Kb duplication. Conclusion. Clinical presentation has been accepted as being the mainstay of diagnosis for most conditions. However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. In this case, a diagnosis was reached by universal genomic testing, namely, whole genomic array.http://dx.doi.org/10.1155/2017/2706098 |
| spellingShingle | Kimia Najafi Roxana Kariminejad Kaveh Hosseini Azadeh Moshtagh Gole Maryam Abbassi Neda Sadatian Masood Bazrgar Ariana Kariminejad Mohamad Hassan Kariminejad Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis Case Reports in Genetics |
| title | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis |
| title_full | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis |
| title_fullStr | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis |
| title_full_unstemmed | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis |
| title_short | Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis |
| title_sort | familial case of pelizaeus merzbacher disorder detected by oligoarray comparative genomic hybridization genotype to phenotype diagnosis |
| url | http://dx.doi.org/10.1155/2017/2706098 |
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