Another observation of microphthalmia in an XX male: Microphthalmia with linear skin defects syndrome without linear skin lesions

Journal of Human Genetics

Volumn 44, Issue 1, 1999, Pages 63-68

  Kono, Tatsuo ^a,b   Migita, Takuo ^b   Koyama, Satomi ^b   Seki, Ichiro ^b  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN BOKUTOH HOSPITAL   (Japan)

Author keywords

Atrioventricular block; Microphthalmia with linear skin defects syndrome (MLS); X inactivation; Xp microdeletion; XX male

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME TRANSLOCATION; CYTOGENETICS; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHESIS; KARYOTYPE 46,XX; MALE; MICROPHTHALMIA; NEWBORN; PHENOTYPE; SKIN DEFECT; X CHROMOSOME INACTIVATION;

CHROMOSOME DELETION; DOSAGE COMPENSATION, GENETIC; HUMANS; INFANT, NEWBORN; MALE; MICROPHTHALMOS; SEX CHROMOSOME ABERRATIONS; SKIN ABNORMALITIES; SYNDROME; TRANSLOCATION, GENETIC; X CHROMOSOME; Y CHROMOSOME;

EID: 0032962753     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050110     Document Type: Article

References (34)

1. Al-Gazali LI, Mueller RF, Caine A, Dennis NR, Antoniou A, Fitchett M, Insley J, Goodfellow PG, Hulten M (1988) An XX male and two t(X;Y) females with linear skin defects: and congenital microphthalmia: A new syndrome at Xp22.3. J Med Genet 25: 638-639
2. Al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR (1990) Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3. J Med Genet 27: 59-63
3. Allanson J, Richter S (1991) Linear skin defects and congenital microphthalmia: A new syndrome at Xp22.2. J Med Genet 28: 143-144
4. Ballabio A (1995) MLS. Aicardi and Goltz syndromes: How many genes involved? Am J Med Genet 59: 100
5. Bird LM, Krous HF, Eichenfield LF, Swalwell CI (1994) Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?. Am J Med Genet 53: 141-148
6. Donnenfeld AE, Graham Jr JM, Packer RJ, Aquino R, Berg SZ, Emanuel BS (1990) Microphthalmia and chorioretinal lesions in a girl with an Xp22.2.-pter deletion and partial 3p trisomy: Clinical observetions relevant to Aicardi syndrome gene localization. Am J Med Genet 37: 182-186
7. Eng A, Lebel RR, Elejalde BR, Anderson C, Bennett L (1994) Linear skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1. J Am Acad Dermatol 31: 680-682
8. Fergunson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL (1990) Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet 84: 198-202
9. Friedman PA, Rao KW, Teplin SW, Aylsworth AS (1988) Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. Am J Hum Genet 43 (Suppl): A50
10. Gericke GS, Myburg E, Bester R, Van Rensburg EJ, Neethling E (1991) Further delineation of the Xp22.2-pter syndrome of linear skin lesions, microphthalmia and anterior chamber eye abnormalities. Am J Hum Genet 49 (Suppl): A271
11. Happle R, Daniels O, Koopman RJJ (1993) MIDAS Syndrome (Microphthalmia. Dermal Aplasia, and Sclerocornea): An X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 47: 710-713
12. Koyama S, Kono T, Uchida K, Noguchi E, Suzuki K, Yamasuge M, Otsuka M, Ito M, Suzuki M, Migita T, Seki I (1993) XX male with ocular symptoms [Japanese]. Presented at the 34th Annual Meeting of the Japanese Teratology Society at Kochi, Japan. Congenital Anomalies, 34, B-02
13. Lebel RR, Elejade BR, Bennett L, Eng A, Husayni T, Sugar J, Gibson L, Anderson C (1992) Gazali-Temple syndrome: Dermatologic streaks, microphthalmia and chromosome rearrangements with chromosome breakpoints near Xp22.3. Presented at March of Dimes 24th Clinical Genetics Conference, A37, Stanford, CA
14. Lindor NM, Michela VV, Hoppe DA, Driscoll DJ, Leavitt JA, Dewald GW (1992) Xp22.3 microdeletion syndrome with microphthalmia. sclerocornea, linear skin defects, and congenital heart defects. Am J Med Genet 44: 61-65
15. Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hulten M, Gould C, Baldini A, Zoghbi HY, Ballabio A (1994) Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization. Am J Med Genet 49: 229-234
16. Magenis RE, Webb MJ, McKean RS, Tomar D, Allen LJ, Kammer H, Van Dyke DL, Lovrien E (1982) Translocation (X;Y) (p22.33;p11.2) in XX males: Etiology of male phenotype. Hum Genet 62: 271-276
17. Magenis RE, Casanova M, Fellous M, Olson S, Sheehy R (1987) Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet 75: 228-233
18. McKusick VA, Francomano CA, Antonarakis SE, Pearrson PL (1994) Mendelian inheritence in man, 11th edn. The Johns Hopkins University Press, Baltimore, MD
19. Mittwoch U (1992) Sex determination and sex reversal: Genotype, phenotype, dogma and semantics. Hum Genet 89: 467-479
20. Mucke J, Happel R, Theile H (1995) MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of gene causing Goltz syndrome. Am J Med Genet 57: 117-118
21. Naritomi K, Izumikawa Y, Nagatani S, Fukushima Y, Wakui K, Niikawa N, Hirayama K (1992) Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome? Am J Med Genet 43: 839-843
22. Paulger BR, Kraus EW, Pulitzer DR, Moore CM (1997) Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck. Pediatr Dermatol 14: 26-30
23. Rodini ESO, Nardi A, Guion-Almeida ML, Richieri-Costa A (1992) Ectodermal dysplasia, ectodactyly, clefting, anophthalmia/ microphthalmia, and genitourinary anomalies: Nosology of Goltz-Gorlin syndrome versus EC syndrome. Am J Med Genet 42: 276-280
24. Ropers HH, Zuffardi O, Bianchi E, Tiepolo L (1982) Agenesis of the corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi syndrome) in a girl with balanced X/3 translocation. Hum Genet 61: 364-368
25. Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, Ommen GJB, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A (1993) A high resolution deletion map of human chromosome Xp22. Nature Genet 4: 272-279
26. Schaefer L, Ballabio A, Zoghbi H (1996) Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects. Genomics 34: 166-172
27. Schnur RE, Wick PA (1995) Intragenic Taq1 restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular alblism (OA1) and microphthalmia with linear skin defects syndrome (MLS). Hum Genet 95: 594-595
28. Shastry BS (1993) Recent developments in certain X-linked genetic eye disorders. Biochim Biophys Acta 1182: 119-127
29. Stratton RF, Walter CA, Paulgar BR, Price ME, Moore CM (1998) Second 46,XX male with MLS stndrome. Am J Med Genet 76: 37-41
30. Temple IK, Hurst JA, Hing S, Butler L, Baraitser M (1990) De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet 27: 56-58
31. Temple IK, Al-Gazali LI (1995) Microphthalmia with linear skin defects and Xp22 deletions (MLS) syndrome. In Congenital malformation syndromes. Chapman & Hall, London
32. Thies U, Rao VVNG, Engel W, Schmidtke J (1991) Physical mapping of two Xp markers DXS16 and DXS143. Hum Genet 86: 418-420
33. Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY (1993) The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of critical regions. Hum Mol Genet 2: 947-952
34. Wettke-Schafer R, Kantner G (1983) X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet 64: 1-23