Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: Demonstration that the mutation is involved in the inactivalion bias [2]

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 558-562

  Lossi, A M ^a   Millian, J M ^a   Villard, L ^a   Orellana, C ^a   Cardoso, C ^a   Prieto, F ^a   Fontes, M ^a   Martinez, F ^a  

^a TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; CONTROLLED STUDY; FEMALE; GENE MUTATION; HAPLOTYPE; HUMAN; LETTER; MALE; MARKER GENE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; X CHROMOSOME INACTIVATION;

EID: 0033364724     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302499     Document Type: Letter

References (14)

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3. C Cardoso S Timsit L Villard M Khrestchatisky M Fontès L Colleaux Specific interaction between the XNP/ATR-X gene product and the set domain of the human EZH2 protein Hum Mol Genet 7 1998 679 684
4. J Gecz H Pollard G Consalez L Villard C Stayton P Millasseau M Khrestchatisky Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 (Xq13.3) Hum Mol Genet 3 1994 39 44
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8. KH Orstavik RE Orstavik AK Naumova P D'Adamo A Gedeon PA Bolhuis PG Barth X-chromosome inactivation in carriers of Barth syndrome Am J Hum Genet 63 1998 1457 1463
9. E Perogaro J Whitaker P Mowery-Rushton U Surti M Lanasa EP Hoffman Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28 Am J Hum Genet 61 1997 160 170
10. RM Plenge L Tranebjaerg PK Jensen C Schwartz HF Willard Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation Am J Hum Genet 64 1999 759 767
11. L Villard D Lacombe M Fontès A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalessemia Eur J Hum Genet 4 1996 316 320
12. L Villard AM Lossi C Cardoso V Proud P Chiaroni L Colleaux C Schwartz Determination of the genomic structure of the XNP/ATR-X gene, encoding a potential zinc-finger helicase Genomics 43 1997 149 155
13. L Villard P Saugier-Veber J Gecz JF Mattéi A Munnich S Lyonnet M Fontés XNP mutation in a large family with Juberg-Marsidi syndrome Nat Genet 12 1996 359 360
14. L Villard A Toutain AM Lossi J Gecz C Houdayer C Moraine M Fontés Splicing mutation in the ATR-X gene can lead to a mental retardation phenotype without alpha-thalassemia Am J Hum Genet 58 1996 499 505