PRUNE syndrome

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

Developmental features

Clinical features

Magnetic resonance imaging (MRI) brain

Synonym

References

1. 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.
2. Imagawa E, Yamamoto Y, Mitsuhashi S, et al. PRUNE1-related disorder: expanding the clinical spectrum. Clin Genet 2018; 94:362-367.
3. Alhaddad B, Schossig A, Haack TB, et al. PRUNE1 deficiency: expanding the clinical and genetic spectrum. Neuropediatrics 2018; 49:330-338. 
4. 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.
5. 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.
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