A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

被引：14

作者：

Khalifa, Ola ^{[1
]}

Imtiaz, Faiqa ^{[2
]}

Allam, Rabab ^{[2
]}

Al-Hassnan, Zuhair ^{[1
,3
]}

Al-Hemidan, Amal ^{[4
]}

Al-Mane, Khalid ^{[5
]}

Abuharb, Gheid ^{[6
]}

Balobaid, Ameera ^{[1
]}

Sakati, Nadia ^{[7
]}

Hyland, James ^{[8
]}

Al-Owain, Mohammed ^{[1
,3
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[3] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia

[4] King Faisal Specialist Hosp & Res Ctr, Sect Ophthalmol, Riyadh 11211, Saudi Arabia

[5] King Faisal Specialist Hosp & Res Ctr, Dept Radiol, Riyadh 11211, Saudi Arabia

[6] King Faisal Specialist Hosp & Res Ctr, Dept Otolaryngol Head & Neck Surg & Commun Sci, Riyadh 11211, Saudi Arabia

[7] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh 11211, Saudi Arabia

[8] Connect Tissue Gene Tests, Allentown, PA USA

来源：

JOURNAL OF MEDICAL GENETICS | 2012年 / 49卷 / 04期

关键词：

STICKLER-SYNDROME; LOCUS; DEFECT; DOMINANT; LINKAGE;

D O I：

10.1136/jmedgenet-2012-100783

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：246 / 248

页数：3

共 16 条

[1] A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis [J].

Ahram, Dina ;

Sato, T. Shawn ;

Kohilan, Abdulghani ;

Tayeh, Marwan ;

Chen, Shan ;

Leal, Suzanne ;

Al-Salem, Mahmoud ;

El-Shanti, Hatem .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (02) :274-278

[2]

Akawi N, 2011, CLIN GENET, DOI 1111/j.1399-0004.2011.01734.x

[3] Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes [J].

Annunen, S ;

Körkkö, J ;

Czarny, M ;

Warman, ML ;

Brunner, HG ;

Kääriäinen, H ;

Mulliken, JB ;

Tranebjaerg, L ;

Brooks, DG ;

Cox, GF ;

Cruysberg, JR ;

Curtis, MA ;

Davenport, SLH ;

Friedrich, CA ;

Kaitila, I ;

Krawczynski, MR ;

Latos-Bielenska, A ;

Mukai, S ;

Olsen, BR ;

Shinno, N ;

Somer, M ;

Vikkula, M ;

Zlotogora, J ;

Prockop, DJ ;

Ala-Kokko, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) :974-983

[4] A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome [J].

Baker, Stuart ;

Booth, Carol ;

Fillman, Corrine ;

Shapiro, Michael ;

Blair, Michael P. ;

Hyland, James C. ;

Ala-Kokko, Leena .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (07) :1668-1672

[5] Marshall syndrome associated with a splicing defect at the COL11A1 locus [J].

Griffith, AJ ;

Sprunger, LK ;

Sirko-Osadsa, DA ;

Tiller, GE ;

Meisler, MH ;

Warman, ML .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :816-823

[6]

KNOWLTON RG, 1989, AM J HUM GENET, V45, P681

[7] ECTODERMAL DYSPLASIA - REPORT OF KINDRED WITH OCULAR ABNORMALITIES AND HEARING DEFECT [J].

MARSHALL, D .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1958, 45 (04) :143-156

[8] Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature [J].

Morales, Jose ;

Al-Sharif, Latifa ;

Khalil, Dania S. ;

Shinwari, Jameela M. A. ;

Bavi, Prashant ;

Al-Mahrouqi, Rahima A. ;

Al-Raihi, Ali ;

Alkuraya, Fowzan S. ;

Meyer, Brian F. ;

Al Tassan, Nada .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) :558-568

[9] Collagens and collagen-related diseases [J].

Myllyharju, J ;

Kivirikko, KI .

ANNALS OF MEDICINE, 2001, 33 (01) :7-21

[10] Shprintzen-Goldberg syndrome:: Fourteen new patients and a clinical analysis [J].

Robinson, PN ;

Neumann, LM ;

Demuth, S ;

Enders, H ;

Jung, U ;

König, R ;

Mitulla, B ;

Müller, D ;

Muschke, P ;

Pfeiffer, L ;

Prager, B ;

Somer, M ;

Tinschert, S .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 135A (03) :251-262

← 1 2 →