| RIDDLE syndrome | |
|---|---|
| Other names | Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome |
 | |
| Riddle syndrome is inherited in an autosomal recessive pattern. | |
RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and Learning difficulties.
Presentation
The features of this condition include:
- Facial dysmorphism
- Short stature
- Mild motor control and learning difficulties
- Mild ataxia
- Microcephaly
- Normal intelligence
- Conjunctival telangiectasia
- Recurrent sinus infections
- Decreased serum IgA
- Late onset of pulmonary fibrosis
- Increased alpha-fetoprotein
- Increased radiosensitivity
Genetics
This condition is due to mutations in the RNF168 gene. It is inherited in an autosomal recessive fashion. The gene encodes a ubiquitin ligase and is located on the long arm of chromosome 3 (3q29) on the Crick (minus strand).[1]
Diagnosis
Differential diagnosis
The DDx is
Management
Epidemiology
This condition is extremely rare. Only four cases have been described up to 2017.[2]
History
This syndrome was first described by Stewart et al. 2007.[3]
References
- ↑ Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, et al. (February 2009). "The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage". Cell. 136 (3): 420–34. doi:10.1016/j.cell.2008.12.042. PMID 19203578. S2CID 12683637.
- ↑ Pietrucha B, Heropolitańska-Pliszka E, Geffers R, Enßen J, Wieland B, Bogdanova NV, Dörk T (2017). "Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings". Frontiers in Immunology. 8: 1683. doi:10.3389/fimmu.2017.01683. PMC 5722808. PMID 29255463.
- ↑ Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, et al. (October 2007). "RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling". Proceedings of the National Academy of Sciences of the United States of America. 104 (43): 16910–5. Bibcode:2007PNAS..10416910S. doi:10.1073/pnas.0708408104. PMC 2040433. PMID 17940005.
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