Ruijs-Aalfs syndrome

Ruijs-Aalfs syndrome
Ruijs-Aalfs syndrome
	Autosomal recessive pattern is the inheritance manner of this condition
Specialty	Medical genetics
Causes	Mutations in the SPRTN gene

Ruijs-Aalfs syndrome is a rare condition characterised by facial and skeletal abnormalities along with the development of hepatoma in the teenage years.

Signs and symptoms

The main features of this condition are evident in skeleton and face^[1]

Facial features:

Triangular face
Small frontotemporal diameter
Small deep set eyes
Bulbous nose with high nasal bridge
Small upper lip
Micrognathia

Skeletal features:

Thoracic kyphoscoliosis
Sloping shoulders
Pectus excavatum
Elbow contractures
Clinodactyly
Pes planus
Delayed bone age

Other associated conditions:

All three patients developed liver cancer (hepatoma) in the teens.

Genetics

This condition has been associated with mutations in the Spartan gene (SPRTN). This gene is located on the long arm of chromosome 1 (1q42.2). The gene SPRTN encodes the DNA dependent metalloprotease Spartan. Spartan is intimately involved in the repair of protein-linked DNA breaks.^[2]

Pathopysiology

This is not understood.^{[citation needed]}

Diagnosis

This syndrome may be suspected on clinical grounds. The diagnosis is established by sequencing the SPRTN gene^{[citation needed]}

Differential diagnosis

Werner syndrome^{[citation needed]}

Treatment

There is no specific treatment for this condition. Management is supportive.^{[citation needed]}

Epidemiology

This condition is considered to be rare with only 3 cases reported in the literature.^{[citation needed]}

History

This condition was first described in 2003.^[3]

References

^ Lessel D, Vaz, B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera, E, Freire R, et al (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet. 46: 1239-1244
^ Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. doi:10.1016/j.dnarep.2019.102669. Epub 2019 Jul 8. Review. PMID 31331820
^ Ruijs MWG, van Andel RNJ, Oshima J, Madan K, Nieuwint AWM, Aalfs CM (2003) Atypical progeroid syndrome: an unknown helicase gene defect? Am J Med Genet 116A: 295-299

[Lessel2014-1] Lessel D, Vaz, B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JCH, Smith KR, Oehler J, Cabrera, E, Freire R, et al (2014) Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genet. 46: 1239-1244

[2] Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. doi:10.1016/j.dnarep.2019.102669. Epub 2019 Jul 8. Review. PMID 31331820

[Ruijs2003-3] Ruijs MWG, van Andel RNJ, Oshima J, Madan K, Nieuwint AWM, Aalfs CM (2003) Atypical progeroid syndrome: an unknown helicase gene defect? Am J Med Genet 116A: 295-299

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