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X-Linked intellectual disability update 2022.
Schwartz, Charles E; Louie, Raymond J; Toutain, Annick; Skinner, Cindy; Friez, Michael J; Stevenson, Roger E.
Afiliação
  • Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Toutain A; Department of Medical Genetics, Centre Hospitalier Universitaire, Tours, France.
  • Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Am J Med Genet A ; 191(1): 144-159, 2023 01.
Article em En | MEDLINE | ID: mdl-36300573
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X-chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of the 199 named XLID syndromes and 27 (25%) of the 108 numbered nonsyndromic XLID families remain to be resolved at the molecular level. Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes Ligados ao Cromossomo X / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes Ligados ao Cromossomo X / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article