RIDDLE syndrome

RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and LEarning difficulties.

RIDDLE syndrome
Other namesRadiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Riddle syndrome is inherited in an autosomal recessive pattern.

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

Epidemiology

This condition is rare. Only four cases have been described up to 2017.[2]

History

This syndrome was first described by Stewart et al. 2007.[3]

References
  1. 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.
  2. 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.
  3. 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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