دورية أكاديمية
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
| العنوان: | New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. |
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| المؤلفون: | Kalay Yildizhan I; Department of Dermatology, School of Medicine, Ankara University, Ankara, Turkey, incilaykalay@gmail.com., Gökpınar İli E; Department of Medical Genetics, School of Medicine, Ankara University, Ankara, Turkey.; Genetic Diseases Center, Başakşehir Pine and Sakura City Hospital, Istanbul, Turkey., Onoufriadis A; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., Kocyigit P; Department of Dermatology, School of Medicine, Ankara University, Ankara, Turkey., Kesidou E; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., Simpson MA; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom., Kutlay NY; Department of Medical Genetics, School of Medicine, Ankara University, Ankara, Turkey., Kundakci N; Department of Dermatology, School of Medicine, Ankara University, Ankara, Turkey. |
| المصدر: | Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (9), pp. 523-530. Date of Electronic Publication: 2020 Nov 06. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel ; New York : S. Karger, c2002- |
| مواضيع طبية MeSH: | Mutation, Missense*, Dermatitis/*genetics , Mixed Function Oxygenases/*genetics , Psoriasis/*genetics, Child ; Cholesterol/biosynthesis ; Cholesterol/blood ; Cholesterol/deficiency ; Cholesterol/therapeutic use ; Consanguinity ; Eye Diseases/genetics ; Female ; Genes, Recessive ; Growth Disorders/genetics ; Homozygote ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use ; Intellectual Disability/genetics ; Male ; Mixed Function Oxygenases/deficiency ; Pedigree ; Rosuvastatin Calcium/therapeutic use ; Siblings ; Triglycerides/blood ; Turkey ; Exome Sequencing |
| مستخلص: | Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumulation of methylsterols can affect global development and cause skin and ocular pathology. Herein, we describe 2 siblings from a consanguineous Turkish family with SC4MOL deficiency presenting with psoriasiform dermatitis, ocular abnormalities (nystagmus, optic hypoplasia, myopia, and strabismus), severe intellectual disability, and growth and motor delay. We undertook whole-exome sequencing and identified a new homozygous missense mutation c.81A>C; p.Asn27Thr in MSMO1. Segregation analysis in all available family members confirmed recessive inheritance of the mutation. The siblings were treated with a combination of oral and topical statin and cholesterol which resulted in clinical improvement. This study demonstrates how genomics-based diagnosis and therapy can be helpful in clinical practice. (© 2020 S. Karger AG, Basel.) |
| فهرسة مساهمة: | Keywords: Cholesterol biosynthesis defects; MSMO1 mutation; Neurodevelopmental delay, SC4MOL deficiency; Skin |
| المشرفين على المادة: | 0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors) 0 (Triglycerides) 83MVU38M7Q (Rosuvastatin Calcium) 97C5T2UQ7J (Cholesterol) EC 1.- (Mixed Function Oxygenases) EC 1.14.18.9 (methylsterol monooxygenase) |
| تواريخ الأحداث: | Date Created: 20201108 Date Completed: 20201214 Latest Revision: 20221207 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1159/000511126 |
| PMID: | 33161406 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1424-859X |
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| DOI: | 10.1159/000511126 |