Medical condition
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:[citation needed ]
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 [citation needed ]
Management
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(January 2018 )
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 .
Classification External resources