Literature DB >> 10417285

A gene for lymphedema-distichiasis maps to 16q24.3.

J Mangion1, N Rahman, S Mansour, G Brice, J Rosbotham, A H Child, V A Murday, P S Mortimer, R Barfoot, A Sigurdsson, S Edkins, M Sarfarazi, K Burnand, A L Evans, T O Nunan, M R Stratton, S Jeffery.   

Abstract

Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.3, and subsequent analysis of the region for recombinant genes places the locus between D16S422 and D16S3074, a distance of approximately 16 cM. Possible candidate genes in this interval include the N-proteinase for type 3 collagen, PCOLN3; the metalloprotease PRSM1; and the cell matrix-adhesion regulator, CMAR.

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Year:  1999        PMID： 10417285      PMCID： PMC1377941          DOI： 10.1086/302500

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


  11 in total

1.  Primary lymphoedema; clinical and lymphangiographic studies of a series of 107 patients in which the lower limbs were affected.

Authors:  J B KINMONTH; G W TAYLOR; G D TRACY; J D MARSH
Journal:  Br J Surg       Date:  1957-07       Impact factor: 6.939

2.  Investigation of the swollen limb with isotope lymphography.

Authors:  C M Proby; J N Gane; A E Joseph; P S Mortimer
Journal:  Br J Dermatol       Date:  1990-07       Impact factor: 9.302

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Review 4.  Managing lymphoedema.

Authors:  P S Mortimer
Journal:  Clin Exp Dermatol       Date:  1995-03       Impact factor: 3.470

5.  Hereditary late-onset lymphedema with pleural effusion and laryngeal edema.

Authors:  F A Herbert; P A Bowen
Journal:  Arch Intern Med       Date:  1983-05

6.  Distichiasis-lymphoedema syndrome: a family report.

Authors:  I K Temple; J R Collin
Journal:  Clin Dysmorphol       Date:  1994-04       Impact factor: 0.816

7.  The inheritance of primary lymphoedema.

Authors:  R F Dale
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

8.  Isotope lymphography: a new method of investigating the role of the lymphatics in chronic limb oedema.

Authors:  G Stewart; J I Gaunt; D N Croft; N L Browse
Journal:  Br J Surg       Date:  1985-11       Impact factor: 6.939

9.  Mapping of primary congenital lymphedema to the 5q35.3 region.

Authors:  A L Evans; G Brice; V Sotirova; P Mortimer; J Beninson; K Burnand; J Rosbotham; A Child; M Sarfarazi
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

10.  Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

Authors:  R E Ferrell; K L Levinson; J H Esman; M A Kimak; E C Lawrence; M M Barmada; D N Finegold
Journal:  Hum Mol Genet       Date:  1998-12       Impact factor: 6.150
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  10 in total

1.  The Doa4 deubiquitinating enzyme is functionally linked to the vacuolar protein-sorting and endocytic pathways.

Authors:  A Y Amerik; J Nowak; S Swaminathan; M Hochstrasser
Journal:  Mol Biol Cell       Date:  2000-10       Impact factor: 4.138

2.  How double eyelashes give you swollen legs.

Authors:  S Jeffery
Journal:  Br J Ophthalmol       Date:  2002-10       Impact factor: 4.638

3.  Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.

Authors:  M Y M Ng; T Andrew; T D Spector; S Jeffery
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

4.  Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Authors:  Carolyn Sholto-Douglas-Vernon; Rachel Bell; Glen Brice; Sahar Mansour; Mansoor Sarfarazi; Anne H Child; Alberto Smith; Russell Mellor; Kevin Burnand; Peter Mortimer; Steve Jeffery
Journal:  Hum Genet       Date:  2005-05-20       Impact factor: 4.132

5.  Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.

Authors:  A Irrthum; M J Karkkainen; K Devriendt; K Alitalo; M Vikkula
Journal:  Am J Hum Genet       Date:  2000-06-09       Impact factor: 11.025

6.  Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

Authors:  J Fang; S L Dagenais; R P Erickson; M F Arlt; M W Glynn; J L Gorski; L H Seaver; T W Glover
Journal:  Am J Hum Genet       Date:  2000-11-08       Impact factor: 11.025

7.  Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.

Authors:  L N Bull; E Roche; E J Song; J Pedersen; A S Knisely; C B van Der Hagen; K Eiklid; O Aagenaes; N B Freimer
Journal:  Am J Hum Genet       Date:  2000-08-30       Impact factor: 11.025

8.  Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Authors:  G Brice; S Mansour; R Bell; J R O Collin; A H Child; A F Brady; M Sarfarazi; K G Burnand; S Jeffery; P Mortimer; V A Murday
Journal:  J Med Genet       Date:  2002-07       Impact factor: 6.318

9.  In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene.

Authors:  Mohammed Nimir; Mohanad Abdelrahim; Mohamed Abdelrahim; Mahil Abdalla; Wala Eldin Ahmed; Muhanned Abdullah; Muzamil Mahdi Abdel Hamid
Journal:  F1000Res       Date:  2017-03-09

10.  Novel FOXC2 Mutation in Hereditary Distichiasis Impairs DNA-Binding Activity and Transcriptional Activation.

Authors:  Leilei Zhang; Jie He; Bing Han; Linna Lu; Jiayan Fan; He Zhang; Shengfang Ge; Yixiong Zhou; Renbing Jia; Xianqun Fan
Journal:  Int J Biol Sci       Date:  2016-08-06       Impact factor: 6.580
  10 in total

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