Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 997-1008

  Nino, Michelle ^a   Matos Miranda, Claudia ^a   Maeda, Momoe ^a   Chen, Li ^a   Allanson, Judith ^b   Armour, Christine ^b   Greene, Carol ^c   Kamaluddeen, Majeeda ^d   Rita, Debra ^e   Medne, Livija ^f   Zackai, Elaine ^f   Mansour, Sahar ^g   Superti Furga, Andrea ^h   Lewanda, Amy ⁱ   Bober, Michael ^j   Rosenbaum, Kenneth ^k   Braverman, Nancy ^a,l  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

^e ADVOCATE LUTHERAN GENERAL HOSPITAL   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ INOVA FAIRFAX HOSPITAL FOR CHILDREN   (United States)

^j NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^k CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^l RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

more..

Author keywords

Airway obstruction; Arylsulfatase E; Brachytelephalangic chondrodysplasia punctata; CDPX1; Cervical vertebra abnormality; Chondrodysplasia punctata; Mutation analysis; Vitamin K deficiency; X chromosome; Xp22.3

Indexed keywords

ARYLSULFATASE; ARYLSULFATASE E; GENOMIC DNA; UNCLASSIFIED DRUG; ARSE PROTEIN, HUMAN;

ADULT; ARTICLE; ARYLSULFATASE E DEFICIENCY; AUTOIMMUNE DISEASE; BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DNA FLANKING REGION; ENZYME DEFICIENCY; EXON; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; VITAMIN K DEFICIENCY; X RAY; AIRWAY OBSTRUCTION; CERVICAL SPINE; CONGENITAL MALFORMATION; ENZYMOLOGY; GENETICS; INFANT; PATHOLOGY; PRESCHOOL CHILD; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

AIRWAY OBSTRUCTION; ARYLSULFATASES; CERVICAL VERTEBRAE; CHILD; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; MALE; VITAMIN K DEFICIENCY;

EID: 42949120609     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32159     Document Type: Article

References (61)

1. Anderson HC, Garimella R, Tague SE. 2005. The role of matrix vesicles in growth plate development and biomineralization. Front Biosci 10:822-837.
2. Austin-Ward E, Castillo S, Cuchacovich M, Espinoza A, Cofre-Beca J, Gonzalez S, Solivelles X, Bloomfield J. 1998. Neonatal lupus syndrome: A case with chondrodysplasia punctata and other unusual manifestations. J Med Genet 35:695-697.
3. Berkner KL. 2005. The vitamin K-dependent carboxylase. Annu Rev Nutr 25:127-149.
4. Bony C, Zyka F, Tiran-Rajaofera I, Attali T, De Napoli S, Alessandri JL. 2002. Warfarin fetopathy. Arch Pediatr 9:705-708.
5. Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. 1997. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 15:369-376.
6. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. 1999. Mutations in the gene encoding 3 beta-hydroxysteroiddelta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 22:291-294.
7. Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. 2003. X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet Part A 117A:164-168.
8. Brunetti-Pierri N, Hunter JV, Boerkoel CF. 2007. Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency? Am J Med Genet Part A 143A:200-204.
9. Carrel L, Willard HF. 2005. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404.
10. Curry CJ, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ. 1984. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010-1015.
11. Dahl HH, Osborn AH, Hutchison WM, Thorburn DR, Sheffield LJ. 1999. Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata. Mol Genet Metab 68:503-506.
12. Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. 1998. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet 62:562-572.
13. Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE. 1999. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 22:286-290.
14. Dhoot GK, Gustafsson MK, Ai X, Sun W, Standiford DM, Emerson CP Jr. 2001. Regulation of Wnt signaling and embryo patterning by an extracellular sulfatase. Science 293:1663-1666.
15. Eash DD, Weaver DD, Brunetti-Pierri N. 2003. Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. Am J Med Genet Part A 122A:70-75.
16. Elcioglu N, Hall CM. 1998. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: Phenocopy or coincidence? J Med Genet 35:690-694.
17. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, et al. 1995. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81:15-25.
18. Garnier A, Dauger S, Eurin D, Parisi I, Parenti G, Garel C, Delbecque K, Baumann C. 2006. Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: Report of four new cases. Eur J Pediatr 166:327-331.
19. Gergely P Jr, Poor G. 2004. Relapsing polychondritis. Best Pract Res Clin Rheumatol 18:723-738.
20. Gilbert EF, Opitz JM, Spranger JW, Langer LO Jr, Wolfson JJ, Viseskul C. 1976. Chondrodysplasia punctata-rhizomelic form. Pathologic and radiologic studies of three infants. Eur J Pediatr 123:89-109.
21. Goldstein J, Arbelaez AM, Bismar T, Grange DK, Martin RA. 2002. Cervical stenosis and cord compression in brachytelephalangic chondrodysplasia punctata: previously unreported severe complication. Proc. Greenwood Genetic Center, XXII David W Smith Workshop on Malformations and Morphogenesis, p 115-116.
22. Gorsi B, Stringer SE. 2007. Tinkering with heparan sulfate sulfation to steer development. Trends Cell Biol 17:173-177.
23. Hall JG, Pauli RM, Wilson KM. 1980. Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68:122-140.
24. Herman TE, Lee BC, McAlister WH. 2002. Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: Report of two cases. Pediatr Radiol 32:452-456.
25. Hou JW. 2005. Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. Chang Gung Med J 28:643-650.
26. Howe AM, Lipson AH, Sheffield LJ, Haan EA, Halliday JL, Jenson F, David DJ, Webster WS. 1995. Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K. Am J Med Genet 58:238-244.
27. Howe AM, Lipson AH, de Silva M, Ouvrier R, Webster WS. 1997. Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure. Am J Med Genet 71:391-396.
28. Huitema LF, Vaandrager AB. 2007. What triggers cell-mediated mineralization? Front Biosci 12:2631-2645.
29. Jaillet J, Robert-Gnansia E, Till M, Vinciguerra C, Edery P. 2005. Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): A possible role for vitamin K deficiency. Birth Defects Res A Clin Mol Teratol 73:188-193.
30. Kelly TE, Alford BA, Greer KM. 1999. Chondrodysplasia punctata stemming from maternal lupus erythematosus. Am J Med Genet 83:397-401.
31. Kirkland V, Sundaram UT, Brookshire G, Nino M, Bober M, Braverman N. 2006. Chondrodysplasia Punctata in Infants of Mothers With Autoimmune Diseases. ASHG meeting abstract, October,2006, New Orleans, http://www.ashg.org/genetics/ ashg06s/index.shtml.
32. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH. 2000. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 90:339-346.
33. Kornak U, Mundlos S. 2003. Genetic disorders of the skeleton: A developmental approach. Am J Hum Genet 73:447-474.
34. Kozlowski K, Basel D, Beighton P. 2004. Chondrodysplasia punctata in siblings and maternal lupus erythematosus. Clin Genet 66:545-549.
35. Krakow D, Williams J III, Poehl M, Rimoin DL, Platt LD. 2003. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol 21:467-472.
36. Lim K, Pugash D, Friedman JM, Ensworth S, Dahlgren L, Kent N. 2005. Just images: Four consecutive pregnancies affected by chondrodysplasia punctata in a woman with mixed connective tissue disease. Ultrasound Obstet Gynecol 24:337.
37. Luo G, Ducy P, McKee MD, Pinero GJ, Loyer E, Behringer RR, Karsenty G. 1997. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 386:78-81.
38. Mandelbrot L, Guillaumont M, Leclercq M, Lefrere JJ, Gozin D, Daffos F, Forestier F. 1988. Placental transfer of vitamin K1 and its implications in fetal hemostasis. Thromb Haemost 60:39-43.
39. Maroteaux P. 1989. Brachytelephalangic chondrodysplasia punctata: A possible X-linked recessive form. Hum Genet 82:167-170.
40. Meier M, Weng LP, Alexandrakis E, Ruschoff J, Goeckenjan G. 2001. Tracheobronchial stenosis in Keutel syndrome. Eur Respir J 17:566-569.
41. Menger H, Lin AE, Toriello HV, Bernert G, Spranger JW. 1997. Vitamin K deficiency embryopathy: A phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. Am J Med Genet 72:129-134.
42. Merten M, Motamedy S, Ramamurthy S, Arnett FC, Thiagarajan P. 2003. Sulfatides: Targets for anti-phospholipid antibodies. Circulation 108:2082-2087.
43. Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B. 1997. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet 15:377-380.
44. Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E. 1999. Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet 21:142-144.
45. Paige DG, Emilion GG, Bouloux PM, Harper JI. 1994. A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 131:622-629.
46. Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. 1997. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am J Med Genet 73:139-143.
47. Pauli RM, Lian JB, Mosher DF, Suttie JW. 1987. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: Clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 41:566-583.
48. Purdue PE, Zhang JW, Skoneczny M, Lazarow PB. 1997. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 15:381-384.
49. Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hortnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Muller CR, Strom TM, Oldenburg J. 2004. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 427:537-541.
50. Sardiello M, Annunziata I, Roma G, Ballabio A. 2005. Sulfatases and sulfatase modifying factors: An exclusive and promiscuous relationship. Hum Mol Genet 14:3203-3217.
51. Sathienkijkanchai A, Wasant P. 2005. Fetal warfarin syndrome. J Med Assoc Thai 88:S246-S250.
52. Sheffield LJ, Danks DM, Mayne V, Hutchinson AL. 1976. Chondrodysplasia punctata-23 cases of a mild and relatively common variety. J Pediatr 89:916-923.
53. Sheffield LJ, Osborn AH, Hutchison WM, Sillence DO, Forrest SM, White SJ, Dahl HH. 1998. Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. J Med Genet 35:1004-1008.
54. Sundaram KS, Lev M. 1990. Regulation of sulfotransferase activity by vitamin K in mouse brain. Arch Biochem Biophys 277:109-113.
55. Takano H, Smith WL, Sato Y, Kao SC. 1998. Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up. Pediatr Radiol 28:497-499.
56. Tongsong T, Wanapirak C, Piyamongkol W. 1999. Prenatal ultrasonographic findings consistent with fetal warfarin syndrome. J Ultrasound Med 18:577-580.
57. Wadelius M, Pirmohamed M. 2007. Pharmacogenetics of warfarin: Current status and future challenges. Pharmacogenomics J 7:99-111.
58. Wessels MW, Den Hollander NJ, De Krijger RR, Nikkels PG, Brandenburg H, Hennekam R, Willems PJ. 2003. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review. Am J Med Genet Part A 120A:97-104.
59. Wester U, Brandberg G, Larsson M, Lonnerholm T, Anneren G. 2002. Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy. Prenat Diagn 22:663-668.
60. Wolpoe ME, Braverman N, Lin SY. 2004. Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata. Arch Otolaryngol Head Neck Surg 130:1423-1426.
61. Yagami K, Suh JY, Enomoto-Iwamoto M, Koyama E, Abrams WR, Shapiro IM, Pacifici M, Iwamoto M. 1999. Matrix GLA protein is a developmental regulator of chondrocyte mineralization and, when constitutively expressed, blocks endochondral and intramembranous ossification in the limb. J Cell Biol 147:1097-1108.