Literature DB >> 20799329

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

Vinit B Mahajan1, Ann Haskins Olney, Penny Garrett, Ajit Chary, Ecaterina Dragan, Gary Lerner, Jeffrey Murray, Alexander G Bassuk.   

Abstract

Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2-bp deletion (c3514-3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin-related conditions including malignancy.
© 2010 Wiley-Liss, Inc.

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Year:  2010        PMID： 20799329      PMCID： PMC2965270          DOI： 10.1002/ajmg.a.33621

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  29 in total

1.  Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.

Authors:  Susana E Kliemann; Ricardo T L Waetge; Oscar T Suzuki; M Rita Passos-Bueno; Sérgio Rosemberg
Journal:  Am J Med Genet A       Date:  2003-05-15       Impact factor: 2.802

2.  Serum endostatin correlates with progression and prognosis of non-small cell lung cancer.

Authors:  Makoto Suzuki; Toshihiko Iizasa; Eitetu Ko; Masayuki Baba; Yukio Saitoh; Kiyoshi Shibuya; Yasuo Sekine; Shigetoshi Yoshida; Kenzo Hiroshima; Takehiko Fujisawa
Journal:  Lung Cancer       Date:  2002-01       Impact factor: 5.705

3.  Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

Authors:  O T Suzuki; A L Sertié; V M Der Kaloustian; F Kok; M Carpenter; J Murray; A E Czeizel; S E Kliemann; S Rosemberg; M Monteiro; B R Olsen; M R Passos-Bueno
Journal:  Am J Hum Genet       Date:  2002-11-01       Impact factor: 11.025

4.  Lack of collagen XVIII/endostatin results in eye abnormalities.

Authors:  Naomi Fukai; Lauri Eklund; Alexander G Marneros; Suk Paul Oh; Douglas R Keene; Lawrence Tamarkin; Merja Niemelä; Mika Ilves; En Li; Taina Pihlajaniemi; Bjorn R Olsen
Journal:  EMBO J       Date:  2002-04-02       Impact factor: 11.598

Review 5.  Knobloch syndrome involving midline scalp defect of the frontal region.

Authors:  L C Sniderman; R K Koenekoop; A M O'Gorman; R H Usher; M R Sufrategui; B Moroz; G V Watters; V M Der Kaloustian
Journal:  Am J Med Genet       Date:  2000-01-17

6.  Overexpression of collagen XVIII is associated with poor outcome and elevated levels of circulating serum endostatin in non-small cell lung cancer.

Authors:  Toshihiko Iizasa; Hao Chang; Makoto Suzuki; Mizuto Otsuji; Sana Yokoi; Masako Chiyo; Shinichiro Motohashi; Kazuhiro Yasufuku; Yasuo Sekine; Akira Iyoda; Kiyoshi Shibuya; Kenzo Hiroshima; Takehiko Fujisawa
Journal:  Clin Cancer Res       Date:  2004-08-15       Impact factor: 12.531

7.  Genetic variations in angiogenesis pathway genes associated with clinical outcome in localized gastric adenocarcinoma.

Authors:  G Lurje; H Husain; D G Power; D Yang; S Groshen; A Pohl; W Zhang; Y Ning; P C Manegold; A El-Khoueiry; S Iqbal; L H Tang; M A Shah; H-J Lenz
Journal:  Ann Oncol       Date:  2009-07-21       Impact factor: 32.976

Review 8.  The antiangiogenic and therapeutic implications of endostatin.

Authors:  B Ren; N Höti; X Rabasseda; Y-Z Wang; M Wu
Journal:  Methods Find Exp Clin Pharmacol       Date:  2003-04

9.  Prospective analysis of circulating endostatin levels in patients with renal cell carcinoma.

Authors:  Andrew L Feldman; H Richard Alexander; James C Yang; W Marston Linehan; Robin A Eyler; Marshall S Miller; Seth M Steinberg; Steven K Libutti
Journal:  Cancer       Date:  2002-10-15       Impact factor: 6.860

10.  Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

Authors:  Olivier Menzel; Reidunn C J Bekkeheien; Alexandre Reymond; Naomi Fukai; Eileen Boye; Gyorgy Kosztolanyi; Salim Aftimos; Samuel Deutsch; Hamish S Scott; Bjorn R Olsen; Stylianos E Antonarakis; Michel Guipponi
Journal:  Hum Mutat       Date:  2004-01       Impact factor: 4.878
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  13 in total

1.  Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

Authors:  Lu-Si Zhang; Hai-Bo Li; Jun Zeng; Yan Yang; Chun Ding
Journal:  Int J Ophthalmol       Date:  2018-06-18       Impact factor: 1.779

Review 2.  The dynamic sclera: extracellular matrix remodeling in normal ocular growth and myopia development.

Authors:  Angelica R Harper; Jody A Summers
Journal:  Exp Eye Res       Date:  2015-04       Impact factor: 3.467

3.  Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.

Authors:  Benjamin W Darbro; Vinit B Mahajan; Lokesh Gakhar; Jessica M Skeie; Elizabeth Campbell; Shu Wu; Xinyu Bing; Kathleen J Millen; William B Dobyns; John A Kessler; Ali Jalali; James Cremer; Alberto Segre; J Robert Manak; Kimerbly A Aldinger; Satoshi Suzuki; Nagato Natsume; Maya Ono; Huynh Dai Hai; Le Thi Viet; Sara Loddo; Enza M Valente; Laura Bernardini; Nitin Ghonge; Polly J Ferguson; Alexander G Bassuk
Journal:  Hum Mutat       Date:  2013-05-28       Impact factor: 4.878

4.  Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.

Authors:  Mari Aikio; Harri Elamaa; David Vicente; Valerio Izzi; Inderjeet Kaur; Lotta Seppinen; Helen E Speedy; Dorota Kaminska; Sanna Kuusisto; Raija Sormunen; Ritva Heljasvaara; Emma L Jones; Mikko Muilu; Matti Jauhiainen; Jussi Pihlajamäki; Markku J Savolainen; Carol C Shoulders; Taina Pihlajaniemi
Journal:  Proc Natl Acad Sci U S A       Date:  2014-07-14       Impact factor: 11.205

5.  Cataract surgery in Knobloch syndrome: a case report.

Authors:  Carmen Sílvia Bongiovanni; Carla Cristina Serra Ferreira; Ana Paula Silvério Rodrigues; João Borges Fortes Filho; Márcia Beatriz Tartarella
Journal:  Clin Ophthalmol       Date:  2011-06-02

6.  Proteomic insight into the molecular function of the vitreous.

Authors:  Jessica M Skeie; C Nathaniel Roybal; Vinit B Mahajan
Journal:  PLoS One       Date:  2015-05-28       Impact factor: 3.240

7.  Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Authors:  Alireza Haghighi; Amit Tiwari; Niloofar Piri; Gudrun Nürnberg; Nasrollah Saleh-Gohari; Amirreza Haghighi; John Neidhardt; Peter Nürnberg; Wolfgang Berger
Journal:  PLoS One       Date:  2014-11-13       Impact factor: 3.240

Review 8.  ADAMTS-18: a metalloproteinase with multiple functions.

Authors:  Jianlu Wei; Chuan-ju Liu; Zongdong Li
Journal:  Front Biosci (Landmark Ed)       Date:  2014-06-01

9.  Genetic Polymorphisms Associated to Folate Transport as Predictors of Increased Risk for Acute Lymphoblastic Leukemia in Mexican Children.

Authors:  Fausto Zaruma-Torres; Ismael Lares-Asseff; Aurea Lima; Aarón Reyes-Espinoza; Verónica Loera-Castañeda; Martha Sosa-Macías; Carlos Galaviz-Hernández; María C Arias-Peláez; Miguel A Reyes-López; Luis A Quiñones
Journal:  Front Pharmacol       Date:  2016-08-05       Impact factor: 5.810

10.  An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.

Authors:  Panfeng Wang; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Yuxi Long; Mengchu Liu; Yongyu Li; Jun Li; Yan Xu; Qingjiong Zhang
Journal:  Front Cell Dev Biol       Date:  2021-06-25
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