Literature DB >> 2393020

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

C E Schwartz1, J Ulmer, A Brown, I Pancoast, H O Goodman, R E Stevenson.   

Abstract

The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial disease-to-marker analysis suggested linkage to three markers (DXYS2 [7b], DXS250 [GMGX22], and DXS3 [p19-2]) located in Xq21. All three exhibited the same maximum lod score of 2.3 at a maximum theta of .05. Multipoint analysis using LINKMAP and a set of four DNA markers (DXYS1-DXYS2-DXS3-DXS94) gave a multipoint lod score of 3.58 for a location of the Allan-Herndon syndrome near locus DXYS1 (pDP34). Therefore, our data indicate that the gene for the Allan-Herndon syndrome is likely located in Xq21.

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Year:  1990        PMID： 2393020      PMCID： PMC1683855     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  14 in total

Review 1.  Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

Authors:  K K Kidd; A M Bowcock; J Schmidtke; R K Track; F Ricciuti; G Hutchings; A Bale; P Pearson; H F Willard; J Gelernter
Journal:  Cytogenet Cell Genet       Date:  1989

2.  Report of the committee on linkage and gene order.

Authors:  B Keats; J Ott; M Conneally
Journal:  Cytogenet Cell Genet       Date:  1989

3.  Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.

Authors:  B Arveiler; I Oberlé; J L Mandel
Journal:  Genomics       Date:  1987-09       Impact factor: 5.736

4.  A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13.

Authors:  C E Schwartz; E McNally; L Leinwand; M H Skolnick
Journal:  Cytogenet Cell Genet       Date:  1986

5.  Allan-Herndon syndrome. I. Clinical studies.

Authors:  R E Stevenson; H O Goodman; C E Schwartz; R J Simensen; W T McLean; C N Herndon
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

6.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

7.  A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.

Authors:  P Wieacker; G Wolff; T F Wienker; M Sauer
Journal:  Am J Med Genet       Date:  1985-04

8.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

9.  Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

Authors:  S Kenwrick; V Ionasescu; G Ionasescu; C Searby; A King; M Dubowitz; K E Davies
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

10.  Fragile X-linked mental retardation: the Martin-Bell syndrome.

Authors:  B W Richards; P E Sylvester; C Brooker
Journal:  J Ment Defic Res       Date:  1981-12
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  22 in total

1.  X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

Authors:  A L Christianson; R E Stevenson; C H van der Meyden; J Pelser; F W Theron; P L van Rensburg; M Chandler; C E Schwartz
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

2.  A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

Authors:  D A Cabezas; R Slaugh; F Abidi; J F Arena; R E Stevenson; C E Schwartz; H A Lubs
Journal:  J Med Genet       Date:  2000-09       Impact factor: 6.318

3.  A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

Authors:  G S Pai; B Hane; M Joseph; R Nelson; L S Hammond; J F Arena; H A Lubs; R E Stevenson; C E Schwartz
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

4.  Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Authors:  I Bach; D Robinson; N Thomas; H H Ropers; F P Cremers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

Review 5.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

6.  Evidence that SIZN1 is a candidate X-linked mental retardation gene.

Authors:  Ginam Cho; Shambhu S Bhat; Jinsong Gao; Julianne S Collins; R Curtis Rogers; Richard J Simensen; Charles E Schwartz; Jeffrey A Golden; Anand K Srivastava
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

7.  A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.

Authors:  J P Johnson; R Nelson; C E Schwartz
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

8.  Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Authors:  L Colleaux; M May; J Belougne; D Lepaslier; C Schwartz; M Fontes
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

Review 9.  The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.

Authors:  Charles E Schwartz; Roger E Stevenson
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2007-06       Impact factor: 4.690

10.  A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors:  L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318
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