Microcephaly, Jejunal Atresia, Aberrant Right Bronchus, Ocular Anomalies, and XY Sex Reversal

American Journal of Medical Genetics

Volumn 125 A, Issue 3, 2004, Pages 293-298

  Keegan, Catherine E ^a   Vilain, Eric ^b   Mohammed, Mansoor ^c   Lehoczky, Jessica ^a   Dobyns, William B ^d   Archer, Steven M ^a   Innis, Jeffrey W ^a,e  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Spectral Genomics Inc   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

^e MS II ^*  (United States)

Author keywords

Jejunal atresia; Microcephaly; Ocular anomalies; Sex reversal

Indexed keywords

ANDROGEN RECEPTOR; ANDROSTANOLONE; TESTOSTERONE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORECTOPIA; DISEASE COURSE; DNA FLANKING REGION; EYE MALFORMATION; EYE SYNECHIA; FEMALE; GENE; GENE AMPLIFICATION; GENE DOSAGE; GONADECTOMY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTESTINE ATRESIA; INTESTINE SURGERY; IRIS DISEASE; JEJUNUM DISEASE; KARYOTYPE 46,XY; LUNG MALFORMATION; MICROCEPHALY; MUELLERIAN DUCT; MULTIPLE MALFORMATION SYNDROME; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; PUPIL DISEASE; SECTORAL IRIS STROMAL HYPOPLASIA; SEX DIFFERENTIATION; SEX TRANSFORMATION; TESTIS; TESTOSTERONE BLOOD LEVEL; TRACHEOBRONCHIAL TREE; TREATMENT OUTCOME;

BRONCHUS;

EID: 1542288718     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20455     Document Type: Article

References (38)

1. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, et al. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501.
2. Barkovich AJ, Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P. 1998. Microlissencephaly: A heterogeneous malformation of cortical development. Neuropediatrics 29:113-119.
3. Bellini C, Mazzella M, Arioni C, Fondelli MP, Serra G. 2002. "Apple-peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: Brain magnetic resonance imaging study. Am J Med Genet 110:176-178.
4. Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D. 1993. Deletion 9p and sex reversal. J Med Genet 30:518-520.
5. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. 2002. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 11:981-991.
6. Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Cordoba SR, Innis JW, Frydman M, Konig R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG. 2000. Familial syndromic esophageal atresia maps to 2p23-p24. Am J Hum Genet 66:436-444.
7. Dobyns WB. 2002. Primary microcephaly: New approaches for an old disorder. Am J Med Genet 112:315-317.
8. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. 1999. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 86:331-337.
9. Feingold M. 1975. Case report 30. Synd Ident 3:16-17.
10. Gottlieb B, Pinsky L, Beitel LK, Trifiro M. 1999. Androgen insensitivity. Am J Med Genet 89:210-217.
11. Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. 2003. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet 120A:127-135.
12. Heinlein CA, Chang C. 2002. Androgen receptor (AR) coregulators: An overview. Endocr Rev 23:175-200.
13. Innis JW, Asher JH Jr, Poznanski AK, Sheldon S. 1997. Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies. Am J Med Genet 71:150-155.
14. Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. 1998. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63:541-546.
15. Jamieson CR, Govaerts C, Abramowicz MJ. 1999. Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65:1465-1469.
16. Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ. 2000. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 67:1575-1577.
17. Jordan BK, Mohammed M, Ching ST, Delot E, Chen XN, Dewing P, Swain A, Rao PN, Elejalde BR, Vilain E. 2001. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet 68:1102-1109.
18. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. 2002. Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 112:318-326.
19. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. 2002. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 32:359-369.
20. Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID, et al. 1995. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 57:1028-1036.
21. McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL. 1997. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet 73:321-326.
22. McElreavey K, Fellous M. 1999. Sex determination and the Y chromosome. Am J Med Genet 89:176-185.
23. McElreavy K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, et al. 1992. XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci USA 89:11016-11020.
24. Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG. 2000. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 66:724-727.
25. Nitsche EM, Hiort O. 2000. The molecular basis of androgen insensitivity. Horm Res 54:327-333.
26. Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG. 2000. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67:1578-1580.
27. Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG. 1999. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 7:815-820.
28. Schueler MG, Higgins AW, Nagaraja R, Tentler D, Dahl N, Gustashaw K, Willard HF. 2000. Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation. Genomics 66:104-109.
29. Shrimpton AE, Daly KM, Hoo JJ. 1999. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. Am J Med Genet 84:293-299.
30. Shrimpton AE, Braddock BR, Hoo JJ. 2000. Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31. Am J Med Genet 92:155-156.
31. Slee J, Goldblatt J. 1996. Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies, and microcephaly. Clin Genet 50:260-262.
32. Stromme P, Andersen W. 1997. Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome. Clin Genet 52:133.
33. Stromme P, Dahl E, Flage T, Stene-Johansen H. 1993. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Clin Genet 44:208-210.
34. Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J. 2002. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 30:441-445.
35. Vaiman D, Pailhoux E. 2000. Mammalian sex reversal and intersexuality: Deciphering the sex-determination cascade. Trends Genet 16:488-494.
36. Warne GL, Zajac JD. 1998. Disorders of sexual differentiation. Endocrinol Metab Clin North Am 27:945-967.
37. Wieacker P, Missbach D, Jakubiczka S, Borgmann S, Albers N. 1996. Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3). Clin Genet 49:271-273.
38. Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. 1993. Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review. Am J Med Genet 46:597-600.