Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
17p11.2
Sjogren-Larsson syndrome (SLS) is a rare neurocutaneous disorder caused by an inborn error of lipid metabolism. While it has a global prevalence of 1:250,000, it is found to be more common in Sweden owing to a founder effect. The condition is characterised by congenital ichthyosis, intellectual deficit, diplegia or tetraplegia, and spasticity.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 270200.1.1 | Lebanon | Unknown | Intellectual disability; Congenital ich... Intellectual disability; Congenital ichthyosiform erythroderma  | NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | Homozygous | Autosomal, Recessive | Sillén et al, 1998 | |||
| 270200.2.1 | Lebanon | Female | No | No | Scaling skin; Pruritus; Palmoplantar h... Scaling skin; Pruritus; Palmoplantar hyperkeratosis; Motor delay; Pneumonia; Respiratory failure; Generalized hypotonia | NM_000382.3:c.710G>A | Homozygous | Autosomal, Recessive | Alió et al, 2006 | The patient had a Le... |
| 270200.3.1 | Jordan | Male | Yes | Yes | Global developmental delay; Ichthyosis Global developmental delay; Ichthyosis | NM_000382.3:c.628G>A | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 270200.4 | United Arab Emirates | Female | Yes | Yes | Congenital ichthyosiform erythroderma; L... Congenital ichthyosiform erythroderma; Lower limb spasticity; Atrial septal defect | NM_000382.2:c.682C>T | Homozygous | Autosomal, Recessive | Alabdullatif et al. 2017 | 2 similarly affected... |
In seven pedigrees of diverse ethnic origins, Rogers et al, 1995, confirmed the linkage of SLS to the pericentric region of chromosome 17. Patients from two consanguineous Egyptian families were homozygous at all nine marker loci in this region, suggesting that in these patients the region of chromosome 17 carrying the SLS gene is identical by descent.
Farah et al, 1996, reported a 37 year old Bedouin female in Kuwait born to healthy consanguineous parents with eight healthy children. The subject was institutionalized at the age of 17 years, she suffered from basal ganglia calcification, high signal white matter lesions in corona radiate, and occipital regions that were revealed with CT/MRI scans.
[Farah S, Rudwan M, Al-Saleh QA, Al-Haj B, Qasrawi B, Hassan M, Al-Awadi SA, Sabry MA, Farag TI. Sjogren-Larsson syndrome: clinical and neuroradiological findings in an institutionalized Bedouin patient. Med Principles Pract. 1996; 5:114-7.]
Tabsh et al, 1993, reported on a pregnant Lebanese woman with 2 children affected by SLS. The authors noted that the best technique for prenatal diagnosis of SLS was through biochemical detection using fetal amniocytes.
Pigg et al, 1999, studied a Lebanese family as well as 9 other non-Swedish families with SLS. By carrying out linkage analysis and haplotype analysis, the authors were able to confirm that SLS was a genetically homogeneous disorder.
Gomori et al, 1987, described the clinical features of 6 siblings affected by Sjogren-Larsson syndrome. Lossos et al, 2006, did a follow-up study on the siblings in adulthood.