Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Ophthalmic Genetics

Volumn 33, Issue 4, 2012, Pages 235-239

  Khan, Arif O ^a,b   Aldahmesh, Mohammed A ^a   Al Ghadeer, Huda ^b   Mohamed, Jawaher Y ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

ADAMTS17; Short stature; Spherophakia; Weill Marchesani Syndrome

Indexed keywords

ADAMTS17 GENE; ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CONSANGUINEOUS MARRIAGE; DISEASE ASSOCIATION; EYE AXIS LENGTH; EYE EXAMINATION; FAMILIAL SPHEROPHAKIA; FEMALE; GENE; GENETIC ANALYSIS; GENETIC COUNSELING; HIGH MYOPIA; HOMOZYGOSITY; HUMAN; LENS DISEASE; MALE; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; SHORT STATURE; SIBLING;

ADAM PROTEINS; ADOLESCENT; CONSANGUINITY; DWARFISM; FEMALE; GENOTYPING TECHNIQUES; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA; WEILL-MARCHESANI SYNDROME; YOUNG ADULT;

EID: 84867648922     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.666708     Document Type: Article

References (21)

1. Desir J, Sznajer Y, Depasse F, et al. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet 2010;18(7):761-767.
2. Kumar A, Duvvari MR, Prabhakaran VC, et al. A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet 2010;128(4):365-371.
3. Khan AO, Aldahmesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma Y a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011;172570-172579.
4. Dagoneau N, Benoist-Lasselin C, Huber C, et al. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004;75(5):801-806. (Pubitemid 39390487)
5. Kutz WE, Wang LW, Bader HL, et al. ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts. J Biol Chem 2011;286(19):17156-17167.
6. Morales J, Al-Sharif L, Khalil DS, et al. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet 2009;85(5):558-568.
7. Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 2003;40(1):34-36. (Pubitemid 36115122)
8. Alkuraya FS. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med 2010;12(4):236-239.
9. El Mouzan MI, Al Herbish AS, Al Salloum AA, et al. Comparison of the 2005 growth charts for Saudi children and adolescents to the 2000 CDC growth charts. Ann Saudi Med 2008;28(5):334-340.
10. Aldahmesh MA, Abu-Safieh L, Khan AO, et al. Allelic heterogeneity in inbred populations: The Saudi experience with Alstrom syndrome as an illustrative example. Am J Med Genet A 2009;149A(4):662-665.
11. Aldahmesh MA, Humeidan A, Almojalli HA, et al. Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet 2009;30(4):185-189.
12. Aldahmesh MA, Khan AO, Meyer BF, et al. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci 2009;50(9):4142-4145.
13. Khan AO, Aldahmesh M, Meyer B. Recessive cornea plana in the Kingdom of Saudi Arabia. Ophthalmology 2006;113(10):1773-8. (Pubitemid 44442423)
14. Khan AO, Aldahmesh MA, Al-Abdi L, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet 2011;32(3):138-142.
15. Khan AO, Alrashed M, Alkuraya FS. 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol 2012 Mar;96(3):422-426.
16. Kuno K, Kanada N, Nakashima E, et al. Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene. J Biol Chem 1997;272(1):556-562. (Pubitemid 27021194)
17. Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet 2011;20(R2): R163YR167.
18. Aldahmesh MA, Khan AO, Mohamed JY, et al. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet 2011;48:597-601.
19. Neuhann TM, Artelt J, Neuhann TF, et al. A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: Evidence of a founder mutation. Invest Ophthalmol Vis Sci 2011;52(2):695-700.
20. Greene VB, Stoetzel C, Pelletier V, et al. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. Ophthalmic Genet 2010;31(1): 47-51.
21. Hubmacher D, Apte SS. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: A novel mechanism influencing microfibril assembly and function. Cell Mol Life Sci 2011;68(19):3137-3148.