A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report
| Autor: | Faezeh Sarvar, Afsaneh Bazgir, Mehdi Agha Gholizadeh, Zahra Pakzad |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Genetics
Microcephaly 030505 public health Genetic heterogeneity Genetic counseling lcsh:Public aspects of medicine Public Health Environmental and Occupational Health Genetic disorder Whole exome sequencing ASPM lcsh:RA1-1270 Case Report Biology medicine.disease Frameshift mutation 03 medical and health sciences 0302 clinical medicine Mutation (genetic algorithm) medicine 030212 general & internal medicine 0305 other medical science Autosomal recessive primary microcephaly Exome sequencing |
| Zdroj: | Iranian Journal of Public Health Iranian Journal of Public Health, Vol 48, Iss 11 (2019) |
| ISSN: | 2251-6093 2251-6085 |
| Popis: | Autosomal recessive primary microcephaly (MCPH) is a rare genetic disorder, leading to the defect of neurogenic brain development. Individuals with MCPH reveal reduced head circumference and intellectual disability. Several MCPH loci have been identified from several populations. Genetic heterogeneity of this disorder represents molecular testing challenge. An 8 yr old female, born from consanguineous parents, was attended to Fardis Central Lab, Alborz, Iran. Based on the reduced circumference and intellectual disability, MCPH was diagnosed. Whole exome sequencing of the patient identified a novel homozygous frameshift mutation (c.2738dupT, p.Cys914fs) in exon 9 Abnormal Spindle-like Microcephaly )ASPM( gene. By Sanger sequencing, segregation analysis showed that both parents were heterozygous carriers for this variant. The novel frameshift mutation likely truncates the protein, resulting in loss of normal function ASPM in homozygous mutation carriers. The study might add a new pathogenic variant in mutations of the ASPM gene as a causative variant in patients with MCPH and might be helpful in genetic counseling of consanguineous families. |
| Databáze: | OpenAIRE |
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