A novel single base pair duplication in WDR62 causes primary microcephaly
| Autor: | Verena Rupp, Ishrat Naveed, Asif Mir, Sobiah Rauf, Christian Windpassinger |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Adult
Male Microcephaly Genotype Molecular Sequence Data Cell Cycle Proteins Nerve Tissue Proteins Case Report Locus (genetics) Biology Frameshift mutation MCPH2 locus symbols.namesake Gene Duplication Gene duplication medicine Genetics Animals Humans Genetics(clinical) Amino Acid Sequence Disease-causing Mutation Autosomal recessive primary microcephaly (MCPH) Gene Genetics (clinical) WDR62 Sanger sequencing Sequence Analysis DNA medicine.disease Pedigree Child Preschool Mutation symbols Chromosomes Human Pair 19 Sequence Alignment SNP array |
| Zdroj: | BMC Medical Genetics |
| ISSN: | 1471-2350 |
| DOI: | 10.1186/s12881-014-0107-4 |
| Popis: | Background Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. Case presentation In this study we report on three Pakistani males from a consanguineous family with 2, 4 and 25 years, diagnosed with autosomal recessive primary microcephaly. By genotyping, Sanger sequencing and using bioinformatical approaches the disease causing mutation was identified and evaluated. Conclusion By using a 250K SNP array, we were able to detect an 11Mb large autozygous region in the MCPH2 locus on chromosome 19q13.12. Sequencing of the associated gene, WDR62, revealed the frameshift causing single base pair duplication, c.2527dupG. This mutation is predicted to affect the structural features of WDR62 which in turn changes the conformation and function of the protein. Aspartic acid (D) at position 843 was found to be conserved among various ortholog species. The present findings will be helpful in genetic diagnosis of patients and future studies of WDR62. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|