Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease
Autor: | Lu Ln, Li-Ling J, Qi Sl, Luo Y, Fu Y, Pang H, Li Jl, Lv Y, Cao Lh |
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Rok vydání: | 2012 |
Předmět: |
Male
Proband China Pediatrics medicine.medical_specialty Ataxia Pelizaeus-Merzbacher Disease Genetic Linkage Offspring Prenatal diagnosis Disease Real-Time Polymerase Chain Reaction Asian People Genetics Humans Medicine Family Family history Child Molecular Biology Genetic testing medicine.diagnostic_test business.industry Infant Newborn Infant Pelizaeus–Merzbacher disease Sequence Analysis DNA General Medicine medicine.disease Magnetic Resonance Imaging Sex-Determining Region Y Protein Pedigree Haplotypes Female medicine.symptom business |
Zdroj: | Genetics and Molecular Research. 11:2035-2044 |
ISSN: | 1676-5680 |
DOI: | 10.4238/2012.august.6.7 |
Popis: | Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on two large Han Chinese families affected with this disease. The probands of both families had produced sons featuring cerebral palsy that had never been correctly diagnosed. PMD was suspected after careful analysis of family history and clinical features. Three rounds of molecular testing, including RT-PCR, genetics linkage and SRY sequence analyses, in combination with fetal ultrasound and magnetic resonance imaging, confirmed the diagnosis. In Family 1, in addition to two patients, three carriers were identified, including one who was not yet married. Genetic testing indicated that a fetus did not have the disease. A healthy girl was born later. In Family 2, two patients and two carriers were identified, while a fetus was genetically normal. A healthy girl was born later. We concluded that by combining genetic testing and imaging, awareness of the symptoms of PMD and understanding of its molecular biology, there is great benefit for families that are at risk for producing offspring affected with this severe disease. |
Databáze: | OpenAIRE |
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