NDLI: Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Content Provider	PubMed Central
Author	Nandrot, E. Slingsby, C. Basak, A. Cherif-chefchaoun., M. Benazzouz, B. Hajaji, Y. Boutayeb, S. Gribouval, O. Arbogast, L. Berraho, A. Abitbol, M. Hilal, L.
Abstract	Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33–35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction θ=0) was obtained for marker D2S2208 near the γ-crystallin gene (CRYG) cluster. Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family. This mutation resulted in a proline to threonine substitution at amino acid 23 of the protein in the first of the four Greek key motifs that characterise this protein. We show that although the x ray crystallography modelling does not indicate any change of the backbone conformation, the mutation affects a region of the Greek key motif that is important for determining the topology of this protein fold. Our data suggest strongly that the proline to threonine substitution may alter the protein folding or decrease the thermodynamic stability or solubility of the protein. Furthermore, this is the first report of a mutation in this gene resulting in autosomal dominant congenital cerulean cataracts.
Related Links	http://dx.doi.org/10.1136/jmg.40.4.262
Starting Page	262
File Format	PDF
ISSN	14686244
e-ISSN	14686244
Journal	Journal of Medical Genetics
Issue Number	4
Volume Number	40
Language	English
Publisher	BMJ Group
Publisher Date	2003-04-01
Access Restriction	Open
Rights Holder	BMJ Group
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Gamma-D crystallin gene mutation causes autosomal dominant congenital cerulean cataracts

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts

Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Similar Documents

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Gamma-D crystallin gene mutation causes autosomal dominant congenital cerulean cataracts

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts

Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts