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PMID:27920410
| Citation |
Hashmi, JA, Al-Harbi, KM, Ramzan, K, Albalawi, AM, Mehmood, A, Samman, MI and Basit, S A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly. Ann Saudi Med 36:391-396 |
|---|---|
| Abstract |
Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. |
| Links |
PubMed Online version:10.5144/0256-4947.2016.391 |
| Keywords |
Adolescent; Child; Consanguinity; Cross-Sectional Studies; Exons; Female; Genome; Homozygote; Humans; Male; Microcephaly/genetics; Mutation; Nerve Tissue Proteins/genetics; Pedigree; RNA Splicing; Sequence Analysis, DNA |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001764: neuron migration |
ECO:0000314: |
P |
Provides regulation during the process of neurogenesis and mitotic spindle regulation. |
complete | ||||
Notes
See also
References
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