原发性纤毛运动障碍（卡塔格内综合征）的异常遗传。
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
作者信息
Narayan D, Krishnan S N, Upender M, Ravikumar T S, Mahoney M J, Dolan T F, Teebi A S, Haddad G G
机构信息
Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.
出版信息
J Med Genet. 1994 Jun;31(6):493-6. doi: 10.1136/jmg.31.6.493.
Abstract
Primary ciliary dyskinesia syndrome is characterised by chronic sinusitis, bronchiectasis, and, in 50% of cases, dextrocardia. It is generally believed to be inherited as an autosomal recessive disorder. In this report, we describe a family consisting of a mother and her five male children, the offspring of three different fathers, all of whom have this syndrome. This argues for either an X linked or autosomal dominant pattern of inheritance. Cytogenetic and FISH (fluorescent in situ hybridisation) analyses were done on the mother and one son and were found to be normal.
摘要
原发性纤毛运动障碍综合征的特征为慢性鼻窦炎、支气管扩张，50%的病例伴有右位心。一般认为它是以常染色体隐性障碍的方式遗传。在本报告中，我们描述了一个由一位母亲和她五个儿子组成的家庭，这五个儿子是三位不同父亲的后代，他们都患有这种综合征。这表明其遗传模式可能是X连锁或常染色体显性。对母亲和一个儿子进行了细胞遗传学和荧光原位杂交（FISH）分析，结果均正常。
相似文献
1
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).原发性纤毛运动障碍（卡塔格内综合征）的异常遗传。
J Med Genet. 1994 Jun;31(6):493-6. doi: 10.1136/jmg.31.6.493.
2
Genetics of Kartagener's syndrome.卡塔格内综合征的遗传学
Eur J Respir Dis Suppl. 1983;127:1-4.
3
Kartagener's syndrome: a case report.卡塔格内综合征：一例报告。
J Med Case Rep. 2018 Jan 10;12(1):5. doi: 10.1186/s13256-017-1538-2.
4
A reappraisal of Kartagener's syndrome.
Am J Med Sci. 1968 Jan;255:13-28.
5
Kartagener's syndrome in sibs: clinical and immunologic investigations.同胞中的卡塔格内综合征：临床与免疫学研究
Hum Genet. 1978 Jul 12;43(1):1-11. doi: 10.1007/BF00396472.
6
[Kartagener's syndrome. Review of the literature and report of 4 cases in 3 families].[卡塔格内综合征。文献综述及3个家庭中4例病例报告]
Bol Med Hosp Infant Mex. 1981 Sep-Oct;38(5):793-806.
7
Ciliary ultrastructure in two sisters with Kartagener's syndrome.患有卡塔格内综合征的两姐妹的睫状体超微结构
Med Mol Morphol. 2007 Mar;40(1):34-9. doi: 10.1007/s00795-007-0354-y. Epub 2007 Mar 29.
8
[Renal amyloidosis revealing a Kartagener's syndrome].肾淀粉样变性病揭示卡塔格内综合征
Nephrol Ther. 2015 Feb;11(1):50-2. doi: 10.1016/j.nephro.2014.09.003. Epub 2014 Nov 28.
9
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.一例由单基因与染色体疾病共存导致的原发性纤毛运动障碍、左右缺陷和发育迟缓的病例报告。
BMC Med Genet. 2015 Jun 30;16:45. doi: 10.1186/s12881-015-0192-z.
10
Kartagener's Syndrome.卡塔格内综合征
Mymensingh Med J. 2009 Jan;18(1):75-9.
引用本文的文献
1
NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.NME5 移码突变与原发性纤毛运动障碍的阿拉斯加雪橇犬。
PLoS Genet. 2019 Sep 3;15(9):e1008378. doi: 10.1371/journal.pgen.1008378. eCollection 2019 Sep.
2
Seeing cilia: imaging modalities for ciliary motion and clinical connections.观察纤毛：纤毛运动的成像方式及临床关联。
Am J Physiol Lung Cell Mol Physiol. 2018 Jun 1;314(6):L909-L921. doi: 10.1152/ajplung.00556.2017. Epub 2018 Mar 1.
3
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.X 连锁原发性纤毛运动障碍与细胞质轴丝动力蛋白装配因子 PIH1D3 突变有关。
Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.
4
Primary ciliary dyskinesia and associated sensory ciliopathies.原发性纤毛运动障碍及相关感觉性纤毛病
Expert Rev Respir Med. 2016;10(5):569-76. doi: 10.1586/17476348.2016.1165612. Epub 2016 Mar 28.
5
Association of polymorphisms in tektin-t gene with idiopathic asthenozoospermia in Sichuan, China.中国四川地区tektin-t基因多态性与特发性弱精子症的关联
J Assist Reprod Genet. 2016 Feb;33(2):181-7. doi: 10.1007/s10815-015-0617-9. Epub 2015 Nov 19.
6
Genetics and biology of primary ciliary dyskinesia.原发性纤毛运动障碍的遗传学与生物学
Paediatr Respir Rev. 2016 Mar;18:18-24. doi: 10.1016/j.prrv.2015.09.001. Epub 2015 Sep 11.
7
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.包含151个基因的卷曲螺旋结构域（CCDC151）中的无义突变导致原发性纤毛运动障碍。
Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698.
8
Gene mutations in primary ciliary dyskinesia related to otitis media.原发性纤毛运动障碍相关的中耳炎基因突变。
Curr Allergy Asthma Rep. 2014 Mar;14(3):420. doi: 10.1007/s11882-014-0420-1.
9
Picking up speed: advances in the genetics of primary ciliary dyskinesia.加速：原发性纤毛运动障碍遗传学的进展
Pediatr Res. 2014 Jan;75(1-2):158-64. doi: 10.1038/pr.2013.200. Epub 2013 Nov 5.
10
Primary ciliary dyskinesia, an orphan disease.原发性纤毛运动障碍，一种孤儿病。
Eur J Pediatr. 2013 Feb;172(2):151-62. doi: 10.1007/s00431-012-1785-6. Epub 2012 Jul 10.
本文引用的文献
1
SUCCESSFUL TREATMENT WITH THE MUCOLYTIC AGENT ACETYLCYSTEINE.
Am Rev Respir Dis. 1964 Jul;90:111-5. doi: 10.1164/arrd.1964.90.1.111.
2
Transposition of ciliary microtubules: another cause of impaired ciliary motility.睫状微管转位：睫状运动受损的另一个原因。
N Engl J Med. 1980 Aug 7;303(6):318-22. doi: 10.1056/NEJM198008073030606.
3
Genetics of Kartagener's syndrome.卡塔格内综合征的遗传学
Eur J Respir Dis Suppl. 1983;127:1-4.
4
Situs inversus totalis and Kartagener's syndrome in a Japanese population.日本人群中的全内脏转位和卡塔格内综合征
Chest. 1972 Jan;61(1):56-61. doi: 10.1378/chest.61.1.56.
5
High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.利用黏粒克隆原位杂交对人类11号染色体进行高分辨率图谱绘制。
Science. 1990 Jan 5;247(4938):64-9. doi: 10.1126/science.2294592.
6
Random ciliary orientation. A cause of respiratory tract disease.
N Engl J Med. 1990 Dec 13;323(24):1681-4. doi: 10.1056/NEJM199012133232406.
7
Microtubule motors: many new models off the assembly line.
Trends Biochem Sci. 1992 Aug;17(8):300-4. doi: 10.1016/0968-0004(92)90440-k.
8
Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome.
Nature. 1976 Aug 5;262(5568):494-5. doi: 10.1038/262494a0.
9
A human syndrome caused by immotile cilia.一种由不动纤毛引起的人类综合征。
Science. 1976 Jul 23;193(4250):317-9. doi: 10.1126/science.1084576.
10
Paralyzed flagella mutants of Chlamydomonas reinhardtii. Defective for axonemal doublet microtubule arms.莱茵衣藻的瘫痪鞭毛突变体。轴丝双联体微管臂存在缺陷。
J Biol Chem. 1979 Apr 25;254(8):3091-9.
Zotero 插件