Literature DB >> 10739771

A novel X-linked dominant condition: X-linked congenital isolated ptosis.

T F McMullan1, A R Collins, A G Tyers, D O Robinson.   

Abstract

We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition.

Entities:  

Mesh：

Year:  2000        PMID： 10739771      PMCID： PMC1288214          DOI： 10.1086/302860

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  8 in total

1.  Error filtration, interference, and the human linkage map.

Authors:  D C Shields; A Collins; K H Buetow; N E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

2.  Linkage map integration.

Authors:  A Collins; J Teague; B J Keats; N E Morton
Journal:  Genomics       Date:  1996-08-15       Impact factor: 5.736

3.  Congenital ptosis. A new pedigree and classification.

Authors:  H B Cohen
Journal:  Arch Ophthalmol       Date:  1972-02

4.  Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping.

Authors:  P W Reed; J L Davies; J B Copeman; S T Bennett; S M Palmer; L E Pritchard; S C Gough; Y Kawaguchi; H J Cordell; K M Balfour
Journal:  Nat Genet       Date:  1994-07       Impact factor: 38.330

5.  A mapping function for man.

Authors:  D C Rao; N E Morton; J Lindsten; M Hultén; S Yee
Journal:  Hum Hered       Date:  1977       Impact factor: 0.444

6.  A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Authors:  E C Engle; A E Castro; M E Macy; J H Knoll; A H Beggs
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

7.  Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

Authors:  E Pegoraro; R N Schimke; K Arahata; Y Hayashi; H Stern; H Marks; M R Glasberg; J E Carroll; J W Taber; H B Wessel
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

8.  The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance.

Authors:  J R O'Connell; D E Weeks
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330
  8 in total
  12 in total

1.  X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Authors:  R S Møller; L R Jensen; S M Maas; J Filmus; M Capurro; C Hansen; C L M Marcelis; K Ravn; J Andrieux; M Mathieu; M Kirchhoff; O K Rødningen; N de Leeuw; H G Yntema; G Froyen; J Vandewalle; K Ballon; E Klopocki; S Joss; J Tolmie; A C Knegt; A M Lund; H Hjalgrim; A W Kuss; N Tommerup; R Ullmann; A P M de Brouwer; P Strømme; S Kjaergaard; Z Tümer; T Kleefstra
Journal:  Hum Genet       Date:  2013-12-11       Impact factor: 4.132

Review 2.  Recent progress in understanding congenital cranial dysinnervation disorders.

Authors:  Darren T Oystreck; Elizabeth C Engle; Thomas M Bosley
Journal:  J Neuroophthalmol       Date:  2011-03       Impact factor: 3.042

3.  X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.

Authors:  T F McMullan; A G Tyers
Journal:  Br J Ophthalmol       Date:  2001-01       Impact factor: 4.638

Review 4.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

5.  Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.

Authors:  Baorong Zhang; Kun Xia; Meiping Ding; Desheng Liang; Zhirong Liu; Qian Pan; Zhengmao Hu; Ling-Qian Wu; Fang Cai; Jiahui Xia
Journal:  Hum Genet       Date:  2004-10-23       Impact factor: 4.132

6.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

7.  Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.

Authors:  Mitsuko Nakashima; Motoi Nakano; Akiyoshi Hirano; Tatsuya Kishino; Shinji Kondoh; Nobutomo Miwa; Norio Niikawa; Koh-Ichiro Yoshiura
Journal:  J Hum Genet       Date:  2007-11-07       Impact factor: 3.172

8.  Current techniques in surgical correction of congenital ptosis.

Authors:  Felicia D Allard; Vikram D Durairaj
Journal:  Middle East Afr J Ophthalmol       Date:  2010-04

9.  The role of apoptosis in blepharoptosis.

Authors:  E Şahlı; B M Hoşal; G Zilelioğlu; N Dinçer; G G Tezel
Journal:  Eye (Lond)       Date:  2013-04-19       Impact factor: 3.775

10.  Controversies and advances in the management of congenital ptosis.

Authors:  Ali Mokhtarzadeh; Andrew R Harrison
Journal:  Expert Rev Ophthalmol       Date:  2014-12-12
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.