Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Prenatal Diagnosis

Volumn 29, Issue 10, 2009, Pages 966-974

  Langlois, Sylvie ^a   Armstrong, Linlea ^a   Gall, Kim ^a   Hulait, Gurdip ^a   Livingston, Janet ^a   Nelson, Tanya ^a   Power, Patricia ^a   Pugash, Denise ^a   Siciliano, Dawn ^a   Steinraths, Michelle ^b   Mattman, André ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b VICTORIA GENERAL HOSPITAL   (Canada)

Author keywords

Genetic counselling; Maternal serum screening; Single gene disorders; STS deficiency; Unconjugated estriols; X linked ichthyosis

Indexed keywords

ESTRIOL;

ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COLOMBIA; CONTIGUOUS GENE DELETION SYNDROME; FAMILY HISTORY; FEMALE; FETUS; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC RISK; HUMAN; INBORN ERROR OF STEROID METABOLISM; INCIDENCE; INFANT; LABORATORY DIAGNOSIS; MALE; MATERNAL SERUM; MEDICAL RECORD REVIEW; MOLECULAR GENETICS; PATIENT INFORMATION; PREGNANCY OUTCOME; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; STERYL SULFATASE DEFICIENCY;

BRITISH COLUMBIA; DNA MUTATIONAL ANALYSIS; ESTRIOL; FEMALE; GENE DELETION; GENETIC DISEASES, INBORN; HUMANS; ICHTHYOSIS, X-LINKED; INCIDENCE; INFANT, NEWBORN; MALE; MOTHERS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; SYNDROME;

EID: 70349648495     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2326     Document Type: Article

References (33)

1. Ahmed MN, Killam A, Thompson KH, Qumsiyeh MB. 1998. Unconjugated estriol as an indication for prenatal diagnosis of steroid sulfatase deficiency by in situ hybridization. Obstet Gynecol 92: 687-689. (Pubitemid 28440794)
2. Aviram-Goldring A, Goldman B, Netanelov-Shapira I, et al. 2000. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 39: 182-187. (Pubitemid 30223880)
3. Ballabio A, Shapiro LJ. 2001. Steroid sulfatase deficiency and X-linked ichthyosis. In Metabolic Basis of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D (ed.). McGraw-Hill: New York; 4241-4262.
4. Ballabio A, Bardoni B, Carrozzo R, et al. 1989. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U.S.A. 86: 10001-10005. (Pubitemid 20030762)
5. Bartels I, Caesar J, Sancken U. 1994. Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. Prenat Diagn 14: 227-229. (Pubitemid 24101564)
6. Bick D, Curry C, McGill JR, et al. 1989. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata and an Xp chromosome deletion. Am J Med Genet 33: 100-107. (Pubitemid 19171122)
7. Bradley L, Canick JA, Palomaki GE, Haddow JE. 1997. Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of prenatal complications associated with placental sulfatase deficiency. Am J Obstet Gynecol 176: 531-535. (Pubitemid 27147156)
8. Boycott KM, Parslow MI, Ross JL, et al. 2003. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. Am J Med Genet A. 122A: 139-147.
9. Craig WY, Haddow JE, Palomaki GE, et al. 2006. Identifying Smity- Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn 26: 842-849.
10. Cuevas-Covarrubias SA, Gonzalez-Huerta LM. 2008. Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. Br J Dermatol 158: 483-486.
11. David M, Israel N, Merksamer R, et al. 1995. Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency. Fetal Diagn Ther 10: 76-80.
12. Fukami M, Kirsch S, Schiller S, et al. 2000. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 67: 563-573. (Pubitemid 30659587)
13. Gohlke BC, Haug K, Fukami M, et al. 2000. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation and epilepsy. J Med Genet 37: 600-602. (Pubitemid 30604098)
14. Hosomi N, Oiso N, Fukai K, et al. 2007. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation. J Dermatol Sci 45: 31-36. (Pubitemid 44969509)
15. Hosomi N, Fukai K, Tanaka A, et al. 2008. Fluorescence in situ hybridization is useful for the diagnosis of the carrier state of Xlinked ichthyosis. Int J Dermatol 47: 529-530. (Pubitemid 351560327)
16. Ingordo V, D'Andria G, Gentil C, et al. 2003. X-linked ichthyosis in Southern Italy. J Am Acad Dermatol 49: 962-963.
17. Jamain S, Quach H, Betancur C, et al. 2003. Mutations of the Xlinked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34: 27-29. (Pubitemid 36548785)
18. Jimenez-Vaca AL, Valdes-Flores M, del Refugio Rivera-Vega M, et al. 2001. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. Molec Med 7: 845-849. (Pubitemid 34175307)
19. Kent L, Emerton J, Bhadravathi V, et al. 2008. X linked ichthyosis (steroid sulphatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet 45: 519-524.
20. Klink A, Meindl A, Hellebrand H, Rappold GA. 1994. A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. Hum Genet 93: 463-466. (Pubitemid 24106477)
21. Laumonnier F, Bonnet-Brilhault F, Gomot M, et al. 2004. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 74: 552-557. (Pubitemid 38325925)
22. Macarov M, Zeigler M, Newman JP, et al. 2007. Deletions of VCXA and NLGN4: a variable phenotype including normal intellect. J Intellect Disabil Res 51: 329-333. (Pubitemid 46502067)
23. Maya-Nunez G, Cuevas-Covarrubias S, Zenteno JC, et al. 1998. Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. Clin Endocrinol 48: 713-718. (Pubitemid 28289239)
24. Muroya K, Ogata T, Matsuo Nn, et al. 1996. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1 and OA1: implication for the MRX locus. Am J Med Genet 64: 583-587. (Pubitemid 127820569)
25. nd trimester screening for Down's syndrome. J Med Screen 9: 43-44.
26. Saeki H, Kiwata S, Nakagawa H, et al. 1998. Deletion pattern of the steroid sulphatase gene in Japanese patients with X-linked ichthyosis. Br J Dermatol 139: 96-98. (Pubitemid 28338070)
27. Schoen E, Norem C, O'Keefe J, et al. 2003. Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz and other fetal conditions. Obstet Gynecol 102: 167-172. (Pubitemid 36792141)
28. Shackleton CH, Roitman E, Kratz L, Kelley R. 2001. Dehydrooestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 21: 207-212. (Pubitemid 32267838)
29. Toral-Lopez J, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. 2008. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome. Br J Dermatol 158: 818-820.
30. Valdes-Flores M, Kofman-Alfaro SH, Jimez-Vaca AL, Cuevas- Covarrubias SA. 2001. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. Am J Med Genet 102: 146-148. (Pubitemid 32674986)
31. Van Esch H, Hollanders K, Badisco L, et al. 2005. Deletion of VCXA due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 14: 1795-1803. (Pubitemid 41418051)
32. Weiss̈ortel R, Strom Tm, Dörr HG, et al. 1998. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet 54: 45-51.
33. Yen PH, Li XM, Tsai SP, et al. 1990. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 61: 603-610. (Pubitemid 20169016)