Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study

American Journal of Medical Genetics

Volumn 64, Issue 1, 1996, Pages 169-175

  Lubs, H A ^a,c   Schwartz, C E ^b   Stevenson, R E ^b   Arena, J F ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c UNIVERSITY OF TROMSØ   (Norway)

Author keywords

linkage; X linked mental retardation; XLMR syndrome

Indexed keywords

ARTICLE; COMPUTER ANALYSIS; DATA BASE; DISEASE PREDISPOSITION; GENE LOCATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; PRIORITY JOURNAL;

DATABASES, FACTUAL; HUMANS; LINKAGE (GENETICS); MENTAL RETARDATION; SYNDROME; X CHROMOSOME;

EID: 0030007791     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<169::AID-AJMG29>3.0.CO;2-K     Document Type: Article

References (34)

1. Aarskog D (1970): A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856-861.
2. Allan W, Herndon CN, Dudley FC (1944): Some examples of the inheritance of mental deficiency: Apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325-334.
3. Arena JF, Lubs HA (19910: Computerized approach to X-linked mental retardation syndromes. Am J Med Genet 38:190-199.
4. Arena JF, Schwartz CE, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, Lubs HA (1992): Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome. Am J Med Genet 43:479-490.
5. Arena JF, Schwartz CE, Ouzts L, Stevenson RE, Miller M, Garza J, Nance M, Lubs HA: X-linked mental retardation with thin habitus, osteoporosis and kyphoscoliosis: Linkage to Xp21.3-p22.12. Am J Med Genet present issue.
6. Bialer MG, Lawrence L, Stevenson R, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE (1992): Allan-Herndon-Dudley syndrome: Clinical and linkage studies on a second family. Am J Med Genet 43:491-497.
7. Boyd E, Schwartz CE, Schroer RJ, May M, Shapiro SD, Arena JF, Lubs HA, Stevenson RE (1993): Agenesis of the corpus callosum associated with MASA syndrome. Clin Dysmorphology 2:332-341.
8. Gedeon AK, Glass IA, Connor JM, Mulley JC (1996): Genetic localization of MRX27 to Xq24-26 defines the sixth discrete gene for non-specific X-linked mental retardation. Am J Med Genet present issue.
9. Golabi M, Ito M, Hall BD (1984): A new X-linked multiple congenital anomalies/mental retardation syndrome. Am J Med Genet 17: 367-374.
10. Hane B, Sehroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE (1996): Nonsyndromic X-linked mental retardation: Review and mapping of MRX29 to Xp21. Am J Med Genet present issue.
11. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S (1994): X-linked spastic paraplegia (SPG1), AIASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407.
12. Lathrop GM, Lalouel JM (1984): Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
13. Lathrop GM, Lalouel JM, Julier C, Ott J (1985): Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
14. Lubs HA, Chiurazzi J, Arena JF, Schwartz CE, Tranebjaerg L, Neri G (1996): XLMR Genes: Updated 1996. Am J Med Genet present issue.
15. Lujan JE, Carlin ME, Lubs HA (1984): A form of X-linked mental retardation with Marfanoid habitus. Am J Med Genet 17:311-322.
16. Miles JH, Carpenter NJ (1991): Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. Am J Med Genet 38:215-223.
17. Mohr J, Mageroy K (1960): Sex-linked deafness of a possibly new type. Acta Genet 10:54-62.
18. Pasteris NG, Cadle A, Logie LJ, Porteous MEM, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL (1994): Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative rho/rac guanine nucleotide exchange factor. Cell 79:669-678.
19. Renpenning H, Gerrard J, Zalewski W, Tabata T (1962): Familial sex-linked mental retardation. Canadian Med Assoc J 37:954-956.
20. Schwartz CE, Ulmer J, Brown A, Panscot I, Goodman HO, Stevenson RE (1990): Allan-Herndon Syndrome II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458.
21. Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena JF, Stevenson RE (1992): MRX 8: An X-linked mental retardation condition with linkage to Xq21. Am J Med Genet 43:467-474.
22. Schwartz CE (1993): Invited Editorial: X-linked mental retardation: In pursuit of a gene map. Am J Hum Genet 52:1025-1031.
23. Schwartz CE, Ouzts L, Gigson A, Cadle R, Arena JF, Boyd E, Hall B, Lubs HA, Stevenson RE (1994): Renpenning syndrome: Evidence for pericentric localization of the gene in two families, including the original Renpenning family. Am J Med Genet 51:611.
24. Scott CI Jr (1971): Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome. BD:OAS VII 6:240-247.
25. Snyder RD, Robinson A (1969): Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: Report of a family. Clin Pediatr 8:669-674.
26. Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN (1990): Allan-Herndon syndrome I. Clinical Studies. Am J Med Genet 47:446-453.
27. Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA, Schwartz CE (1994): Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome. Am J Med Genet 52:339-345.
28. Tranebjaerg L, Svejgaard A, Lykkesfeldt G (1988): X-linked mental retardation associated with psoriasis: A new syndrome? Am J Med Genet 30:263-273.
29. Tranebjaerg L, Lou H, Andresen J (1992): New X-linked syndrome with apraxia, ataxia and mental deficiency: Clinical, cytogenetic and neuropsychological studies in two Danish families. Am J Med Genet 43:498-504.
30. Tranebjaerg L, Schwartz CE, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena JF, Barker D, Elverland H, Lubs HA (1995): A new X-linked recessive deafness syndrome with blindness, dystonia, fractures and mental deficiency is linked to Xq22. J Med Genet 32:257-263.
31. Vits L, Van Camp G, Coucke P, Fransen E, DeBoulle K, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, Winter RM, Schwartz C, Willems PJ (1994): MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet 7:408-413.
32. Wieacker P, Wolff G, Wienker TF, Sauer M (1985): A new X-linked syndrome with muscle atrophy, congenital contractures and oculomotor apraxia. Am J Med Genet 20:597-606.
33. Wieacker P, Wolff G, Wienker TF (1987): Close linkage to the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. Am J Med Genet 28:245-253.
34. Willard HF, Cremers F, Mandel JL, Monaco AP, Nelson DL, Schlessinger D (1994): Report of the Fifth International Workshop on Human X-Chromosome Mapping 1994. Cytogenet Cell Genet 67:295-358.