autosomal inheritance

出典: meddic


UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

英文文献

  • Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
  • Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ.AbstractFocal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CYP26C1-a duplication of seven base pairs, which was maternally inherited, c.844_851dupCCATGCA, predicting p.Glu284fsX128 and a missense mutation, c.1433G>A, predicting p.Arg478His, that was paternally inherited. The duplication predicted a frameshift mutation that led to a premature stop codon and premature chain termination, whereas the missense mutation was not functional based on its in vitro expression in mammalian cells. The FFDD skin lesions arise along the sites of fusion of the maxillary and mandibular prominences early in facial development, and Cyp26c1 was expressed exactly along the fusion line for these facial prominences in the first branchial arch in mice. Sequencing of four additional, unrelated Type IV FFDD patients and eight Type II or III TWIST2-negative FFDD patients revealed that three of the Type IV patients were homozygous for the duplication, whereas none of the Type II or III patients had CYP26C1 mutations. The seven base pairs duplication was present in 0.3% of healthy controls and 0.3% of patients with other birth defects. These findings suggest that the phenotypic manifestations of FFDD Type IV can be non-penetrant or underascertained. Thus, FFDD Type IV results from the loss of function mutations in CYP26C1.
  • Human molecular genetics.Hum Mol Genet.2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16.
  • Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family
  • PMID 23161670
  • [Etiology and pathophysiology of benign prostate hyperplasia.]
  • Roosen A, Gratzke C, Herrlemann A, Magistro G, Strittmatter F, Weinhold P, Tritschler S, Stief CG.SourceUrologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Klinikum Großhadern, Marchioninistraße 15, 81377, München, Deutschland, Alexander.Roosen@med.uni-muenchen.de.
  • Der Urologe. Ausg. A.Urologe A.2013 Feb 2. [Epub ahead of print]
  • The pathogenesis of benign prostate hyperplasia (BPH) is still unclear. It is a common disease affecting exclusively humans in its full clinical appearance. There is a broad variety of possible underlying mechanisms which most likely interact in the pathogenesis of the disease: inflammatory processe
  • PMID 23370401

和文文献

関連リンク

a pattern of inheritance in which the transmission of traits depends on the presence or absence of certain alleles on the autosomes. The pattern may be dominant or recessive, and males and females are usually affected with equal frequency.

関連画像


押しても画像が表示されない場合はサーバが混雑しています。2週間ほどあけて、再度押下してください。


★リンクテーブル★
リンク元常染色体遺伝
関連記事inheritance」「autosomal

常染色体遺伝」

  [★]

autosomal inheritance


inheritance」

  [★]

  • n.
assethereditaryheredityheritageinheritlegacywill

WordNet   license wordnet

「that which is inherited; a title or property or estate that passes by law to the heir on the death of the owner」
heritage

WordNet   license wordnet

「(genetics) attributes acquired via biological heredity from the parents」
hereditary pattern

WordNet   license wordnet

「any attribute or immaterial possession that is inherited from ancestors; "my only inheritance was my mother''s blessing"; "the world''s heritage of knowledge"」
heritage

WordNet   license wordnet

「hereditary succession to a title or an office or property」
heritage

PrepTutorEJDIC   license prepejdic

「〈U〉『相続』,継承 / 〈C〉『遺産』,相続財産 / 〈C〉(両親・前任者・前代などから)受け継いだもの」

autosomal」

  [★]

  • adj.
  • 常染色体性の、常染色体の
autosomallyautosome

WordNet   license wordnet

「of or relating to an autosome; "autosomal gene"」




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡