Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1597-1604

  Schaaf, Christian P ^a   Koster, Janet ^b   Katsonis, Panagiotis ^a   Kratz, Lisa ^c   Shchelochkov, Oleg A ^d   Scaglia, Fernando ^a   Kelley, Richard I ^c   Lichtarge, Olivier ^a   Waterham, Hans R ^b   Shinawi, Marwan ^e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e WASHINGTON UNIVERSITY   (United States)

Author keywords

24 dehydrocholesterol reductase; Arthrogryposis; Brain malformations; Cholesterol; Desmosterol; Desmosterolosis

Indexed keywords

24 DEHYDROCHOLESTEROL REDUCTASE; ADENINE; AMINO ACID; ARGININE; COMPLEMENTARY DNA; DESMOSTEROL; FLAVINE ADENINE NUCLEOTIDE; GLUTAMIC ACID; GUANINE; HISTIDINE; LYSINE; PROTEIN DHCR24; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTHROGRYPOSIS; ARTICLE; BINDING SITE; CASE REPORT; CORPUS CALLOSUM; DESMOSTEROLOSIS; DISORDERS OF CHOLESTEROL METABOLISM; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FACE DYSMORPHIA; FEMALE; GENETIC CONSERVATION; HETEROZYGOTE; HUMAN; HYDROCEPHALUS; IMAGE ANALYSIS; INFANT; MACROCEPHALY; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; TECTUM;

AGE DETERMINATION BY SKELETON; BRAIN; DESMOSTEROL; EXONS; FEMALE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MAGNETIC RESONANCE IMAGING; MOLECULAR DYNAMICS SIMULATION; MUTATION; NERVE TISSUE PROTEINS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; SACCHAROMYCES CEREVISIAE;

EID: 79959519793     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34040     Document Type: Article

References (35)

1. Amir N, El-Peleg O, Shalev RS, Christensen E. 1987. Glutaric aciduria type I: Clinical heterogeneity and neuroradiologic features. Neurology 37: 1654-1657.
2. Anderson AJ, Stephan MJ, Walker WO, Kelley RI. 1998. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. Am J Med Genet 78: 413-418.
3. Andersson HC, Kratz L, Kelley R. 2002. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet 113: 315-319.
4. Chan YM, Merkens LS, Connor WE, Roullet JB, Penfield JA, Jordan JM, Steiner RD, Jones PJ. 2009. Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res 65: 681-685.
5. Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. 2007. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance. Am J Med Genet Part A 143A: 1268-1281.
6. Chothia C, Lesk AM. 1986. The relation between the divergence of sequence and structure in proteins. EMBO J 5: 823-826.
7. Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA. 2003. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 33: 508-513.
8. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. 1997. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 68: 305-310.
9. FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT. 1998. Clinical phenotype of desmosterolosis. Am J Med Genet 75: 145-152.
10. Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. 2007. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 80: 1179-1187.
11. Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M. 2007. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): Defining novel phenotypes through hierarchical cluster analysis. Hum Mutat 28: 808-815.
12. Guy RK. 2000. Inhibition of sonic hedgehog autoprocessing in cultured mammalian cells by sterol deprivation. Proc Natl Acad Sci USA 97: 7307-7312.
13. Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P. 2007. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis 30: 375-387.
14. Hennekam RC. 2005. Congenital brain anomalies in distal cholesterol biosynthesis defects. J Inherit Metab Dis 28: 385-392.
15. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. 2008. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet Part A 146A: 2871-2878.
16. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. 1997. Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial. Am J Med Genet 68: 311-314.
17. Jurevics H, Morell P. 1995. Cholesterol for synthesis of myelin is made locally not imported into brain. J Neurochem 64: 895-901.
18. Kelley RI. 1995. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236: 45-58.
19. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37: 321-335.
20. Kulkarni ML, Sneharoopa B, Vani HN, Nawaz S, Kannan B, Kulkarni PM. 2007. Eventration of the diaphragm and associations. Indian J Pediatr 74: 202-205.
21. Levin ML, Lupski JR, Carpenter RJ Jr, Gerson LP, Greenberg F. 1993. An additional case of pachygyria, joint contractures and facial abnormalities. Clin Dysmorphol 2: 365-368.
22. Lichtarge O, Bourne HR, Cohen FE. 1996. An evolutionary trace method defines binding surfaces common to protein families. J Mol Biol 257: 342-358.
23. Maresh MM. 1955. Linear growth of long bones of extremities from infancy through adolescence; continuing studies. AMA Am J Dis Child 89: 725-742.
24. Mauch DH, Nagler K, Schumacher S, Goritz C, Muller EC, Otto A, Pfrieger FW. 2001. CNS synaptogenesis promoted by glia-derived cholesterol. Science 294: 1354-1357.
25. Mihalek I, Res I, Lichtarge O. 2006. Evolutionary trace report-maker: A new type of service for comparative analysis of proteins. Bioinformatics 22: 1656-1657.
26. Mirza R, Hayasaka S, Takagishi Y, Kambe F, Ohmori S, Maki K, Yamamoto M, Murakami K, Kaji T, Zadworny D, Murata Y, Seo H. 2006. DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. J Invest Dermatol 126: 638-647.
27. Morgan DH, Kristensen DM, Mittelman D, Lichtarge O. 2006. ET viewer: An application for predicting and visualizing functional sites in protein structures. Bioinformatics 22: 2049-2050.
28. Nwokoro NA, Mulvihill JJ. 1997. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet 68: 315-321.
29. Pfrieger FW. 2003. Role of cholesterol in synapse formation and function. Biochim Biophys Acta 1610: 271-280.
30. Sikora DM, Ruggiero M, Petit-Kekel K, Merkens LS, Connor WE, Steiner RD. 2004. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr 144: 783-791.
31. Stratton RF, Young RS, Heiman HS, Carter JM. 1993. Fryns syndrome. Am J Med Genet 45: 562-564.
32. Tierney E, Conley SK, Goodwin H, Porter FD. 2010. Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet Part A 152A: 91-95.
33. Ward RM, Erdin S, Tran TA, Kristensen DM, Lisewski AM, Lichtarge O. 2008. De-orphaning the structural proteome through reciprocal comparison of evolutionarily important structural features. PLoS One 3: e2136.
34. Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. 2001. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet 69: 685-694.
35. Wechsler A, Brafman A, Shafir M, Heverin M, Gottlieb H, Damari G, Gozlan-Kelner S, Spivak I, Moshkin O, Fridman E, Becker Y, Skaliter R, Einat P, Faerman A, Björkhem I, Feinstein E. 2003. Generation of viable cholesterol-free mice. Science 302: 2087.