Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation
| Autor: | Mohammed Al-Owain, Nadia Al-Sakati, Alain Verloes, Faiqa Imtiaz, Khalid Al-Manea, Ola Khalifa |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Genetic counseling Saudi Arabia Dwarfism Osteochondrodysplasias Asymptomatic Intellectual Disability medicine Humans splice Spondyloepimetaphyseal dysplasia business.industry Siblings Homozygote Intracellular Signaling Peptides and Proteins Proteins Genetic Diseases X-Linked medicine.disease Reverse transcriptase Atlanto-Axial Joint Dysplasia Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Chromosomal region Female RNA Splice Sites medicine.symptom Chromosomes Human Pair 18 business |
| Zdroj: | European Journal of Pediatrics. 170:121-126 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s00431-010-1298-0 |
| Popis: | Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We report two siblings with classical clinical and radiological features of DMC and asymptomatic atlanto-axial dislocation. A novel homozygous splice-site mutation (IVS15+3G>T) was detected. Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed that this mutation affects normal splicing. To the best of our knowledge, this is the first report of DMC from Saudi Arabia. The splice mutation noted in our patients was compared to the previously reported cases and supports the hypothesis that loss of DYM function is the likely mechanism of disease pathogenesis. In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling. |
| Databáze: | OpenAIRE |
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