Genetics and physiopathology of X-linked mental retardation

被引:0
作者
Chelly, J [1 ]
Mandel, JL [1 ]
机构
[1] CHU Cochin, Lab Genet & Physiopathol Retards Mentaux, F-75014 Paris, France
来源
NEUROSCIENCES IN THE POSTGENOMIC ERA | 2003年
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Mutations in X-linked genes account for an excess of males affected with mental retardation. Target genes have recently been identified both for syndromic forms of X-linked mental retardation and in families affected with "nonspecific" forms, where cognitive impairment is the only clinical feature. The latter are genetically very heterogeneous, as the eight genes identified up to know account for only a minority of affected families. Proteins that have a role in chromatin remodelling are affected in three important syndromic forms, while defects in signal transduction pathways implicated in neuronal maturation were found in "nonspecific" forms. These findings provide important insights into the molecular and cellular defects that underlie mental retardation.
引用
收藏
页码:135 / 158
页数:24
相关论文
共 50 条
  • [31] FAMILIAL X-LINKED MENTAL-RETARDATION
    SORDO, MT
    DEPABLO, CE
    GUZMAN, M
    CASTILLA, AQ
    ROMAN, CS
    CLINICAL GENETICS, 1983, 23 (03) : 247 - 247
  • [32] FRAGILE X-LINKED MENTAL-RETARDATION
    MATTEI, JF
    ARCHIVES FRANCAISES DE PEDIATRIE, 1982, 39 (08): : 633 - 639
  • [33] X-LINKED NONSPECIFIC MENTAL-RETARDATION
    VANDENBERGHE, H
    DEROOVER, J
    PARLOIR, C
    FRYNS, JP
    CLINICAL GENETICS, 1978, 13 (01) : 106 - 106
  • [34] X-LINKED MENTAL-RETARDATION SYNDROMES
    TURNER, G
    JOURNAL OF PEDIATRICS, 1979, 95 (04) : 669 - 669
  • [35] Monogenic causes of X-linked mental retardation
    Jamel Chelly
    Jean-Louis Mandel
    Nature Reviews Genetics, 2001, 2 : 669 - 680
  • [36] FRAGILE X-LINKED MENTAL-RETARDATION
    CARPENTER, NJ
    LEICHTMAN, LG
    LOGAN, A
    SAY, B
    AMERICAN JOURNAL OF HUMAN GENETICS, 1981, 33 (06) : A100 - A100
  • [37] FRAGILE X-LINKED MENTAL-RETARDATION
    KAISERMCCAW, B
    HECHT, F
    CADIEN, JD
    MOORE, BC
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 7 (04): : 503 - 505
  • [38] RENPENNINGS SYNDROME - X-LINKED MENTAL RETARDATION
    TURNER, G
    TURNER, B
    COLLINS, E
    LANCET, 1970, 2 (7668) : 365 - &
  • [39] X-LINKED MENTAL-RETARDATION AND/OR HYDROCEPHALUS
    FRIED, K
    CLINICAL GENETICS, 1972, 3 (04) : 258 - &
  • [40] Prevalence of mutations in X-linked mental retardation genes in familial mental retardation
    Tarpey, P
    Fryer, A
    Gecz, J
    Goodship, J
    Partington, M
    Price, S
    Schwartz, C
    Stevenson, R
    Tolmie, J
    Turner, G
    Wooster, R
    Futreal, PA
    Stratton, MR
    Raymond, FL
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S18 - S18