Targeted gene under study:
MSMO1 (OMIM * 607545)
Abstract
MSMO1 deficiency (OMIM #616834) is an ultra-rare autosomal recessive disorder affecting cholesterol metabolism. To date, eight cases have been documented in medical literature. This disorder results from loss-of-function variants in the MSMO1 gene, encoding methylsterol monooxygenase 1, and leads to the accumulation of methylsterols. Clinically, MSMO1 deficiency manifests with growth and developmental delays, often accompanied by psoriasiform dermatitis, congenital cataracts, microcephaly, and immune dysfunction. Importantly, it is a potentially treatable condition. A therapeutic approach involving systemic cholesterol supplementation, statins, bile acids, and topical application of a cholesterol/statin formulation has shown remarkable results, improving psoriasiform dermatitis and promoting hair growth. We aim to collect clinical and genetic information from additional cases to deepen our understanding, refine treatment strategies, and improve the quality of life for those affected individuals. Clinicians and researchers are invited to contribute to this collective effort as we work towards a comprehensive understanding of the clinical spectrum and therapeutic options for MSMO1 deficiency.
Coordinating clinicians
Dr. Tinatin Tkemaladze – t.tkemaladze@tsmu.ed
Dr. Sofia Douzgou Houge – sofia.douzgou.houge@helse-bergen.no
Dr. Kakha Bregvadze – k.bregvadze@tsmu.edu
Dr. Gunnar Douzgos Houge – gunnar.douzgos.houge@helse-bergen.no
Institutions
Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes