PRUNE syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
PRUNE syndrome. This is caused by mutations in the PRUNE1 gene on chromosome 1q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the PRUNE1 gene on chromosome 1q
- PRUNE1 is a member of the phosphoesterases (DHH) superfamily
- It plays a role in neuronal motility and proliferation
- It has a function in microtubule polymerization
- The transmission is autosomal recessive
Dysmorphic features
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Developmental features
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Clinical features
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Magnetic resonance imaging (MRI) brain
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Synonym
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References
- Alfadhel M, Nashabat M, Hundallah K, Al Hashem A, Alrumayyan A, Tabarki B. PRUNE syndrome is a new neurodevelopmental disorder: report and review. Child Neurol Open 2018; 5:2329048X17752237.
- Imagawa E, Yamamoto Y, Mitsuhashi S, et al. PRUNE1-related disorder: expanding the clinical spectrum. Clin Genet 2018; 94:362-367.
- Alhaddad B, Schossig A, Haack TB, et al. PRUNE1 deficiency: expanding the clinical and genetic spectrum. Neuropediatrics 2018; 49:330-338.
- Zollo M, Ahmed M, Ferrucci V, et al. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 2017; 140:940-952.
- Iacomino M, Fiorillo C, Torella A, et al. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. Eur J Paediatr Neurol 2018; 22:541-543.
