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7-Dehydrocholesterol Reductase Deficiencies

MedGen UID:
398252
•Concept ID:
C2713347
•
Disease or Syndrome
Synonyms: 7-Dehydrocholesterol Reductase Deficiency; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol

Professional guidelines

PubMed

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Poretti A, Boltshauser E, Doherty D
Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):211-26. Epub 2014 May 16 doi: 10.1002/ajmg.c.31398. PMID: 24839100
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):285-94. Epub 2012 Oct 5 doi: 10.1002/ajmg.c.31347. PMID: 23042642Free PMC Article
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
Porter FD
Eur J Hum Genet 2008 May;16(5):535-41. Epub 2008 Feb 20 doi: 10.1038/ejhg.2008.10. PMID: 18285838

Recent clinical studies

Etiology

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC
Am J Med Genet A 2021 Apr;185(4):1131-1141. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62087. PMID: 33529473Free PMC Article
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR, Tatonetti NP
Pharmacogenomics J 2016 Oct;16(5):411-29. Epub 2016 Jul 12 doi: 10.1038/tpj.2016.48. PMID: 27401223Free PMC Article
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD
Expert Rev Mol Med 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. PMID: 21777499Free PMC Article
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
Waterham HR, Wanders RJ
Biochim Biophys Acta 2000 Dec 15;1529(1-3):340-56. doi: 10.1016/s1388-1981(00)00159-1. PMID: 11111101

Diagnosis

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC
Am J Med Genet A 2021 Apr;185(4):1131-1141. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62087. PMID: 33529473Free PMC Article
Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Syndromes associated with holoprosencephaly.
Kruszka P, Muenke M
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):229-237. Epub 2018 May 17 doi: 10.1002/ajmg.c.31620. PMID: 29770994Free PMC Article
Cholesterol metabolism deficiency.
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407

Therapy

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome.
Tomita H, Hines KM, Herron JM, Li A, Baggett DW, Xu L
Elife 2022 Sep 16;11 doi: 10.7554/eLife.67141. PMID: 36111785Free PMC Article
EDITOR'S PERSPECTIVE: On the verge of translation: Combined cholesterol-antioxidant supplementation as a potential therapeutic intervention for Smith-Lemli-Opitz syndrome.
Fliesler SJ
Exp Eye Res 2021 Jan;202:108390. Epub 2020 Dec 8 doi: 10.1016/j.exer.2020.108390. PMID: 33307076
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR, Tatonetti NP
Pharmacogenomics J 2016 Oct;16(5):411-29. Epub 2016 Jul 12 doi: 10.1038/tpj.2016.48. PMID: 27401223Free PMC Article
Smith-Lemli-Opitz syndrome.
Sinclair L, Winterborn MH, Brown J
Proc R Soc Med 1969 Sep;62(9):907-8. PMID: 5349196Free PMC Article

Prognosis

Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Intraluminal Pulmonary Vein Stenosis in Children: A "New" Lesion.
Nasr VG, Callahan R, Wichner Z, Odegard KC, DiNardo JA
Anesth Analg 2019 Jul;129(1):27-40. doi: 10.1213/ANE.0000000000003924. PMID: 30451723
Vitamin D levels in Smith-Lemli-Opitz syndrome.
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD
Am J Med Genet A 2017 Oct;173(10):2577-2583. Epub 2017 Aug 10 doi: 10.1002/ajmg.a.38361. PMID: 28796426Free PMC Article
Novel activities of CYP11A1 and their potential physiological significance.
Slominski AT, Li W, Kim TK, Semak I, Wang J, Zjawiony JK, Tuckey RC
J Steroid Biochem Mol Biol 2015 Jul;151:25-37. Epub 2014 Nov 13 doi: 10.1016/j.jsbmb.2014.11.010. PMID: 25448732Free PMC Article
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009

Clinical prediction guides

Human Genetics of Atrial Septal Defect.
Larsen LA, Hitz MP
Adv Exp Med Biol 2024;1441:467-480. doi: 10.1007/978-3-031-44087-8_24. PMID: 38884726
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome.
Tomita H, Hines KM, Herron JM, Li A, Baggett DW, Xu L
Elife 2022 Sep 16;11 doi: 10.7554/eLife.67141. PMID: 36111785Free PMC Article
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC
Am J Med Genet A 2021 Apr;185(4):1131-1141. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62087. PMID: 33529473Free PMC Article
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR, Tatonetti NP
Pharmacogenomics J 2016 Oct;16(5):411-29. Epub 2016 Jul 12 doi: 10.1038/tpj.2016.48. PMID: 27401223Free PMC Article
The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.
Opitz JM, Furtado LV
Am J Med Genet C Semin Med Genet 2012 Nov 15;160C(4):242-9. Epub 2012 Oct 11 doi: 10.1002/ajmg.c.31341. PMID: 23059855

Recent systematic reviews

Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free PMC Article
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM
J Inherit Metab Dis 2018 May;41(3):533-539. Epub 2018 Apr 5 doi: 10.1007/s10545-018-0174-3. PMID: 29623569Free PMC Article
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR, Tatonetti NP
Pharmacogenomics J 2016 Oct;16(5):411-29. Epub 2016 Jul 12 doi: 10.1038/tpj.2016.48. PMID: 27401223Free PMC Article

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