NDLI: Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

Content Provider	PubMed Central
Author	Li, Shouling Tiab, Leila Jiao, Xiaodong Munier, Francis L. Zografos, Leonidas Frueh, Béatrice E. Sergeev, Yuri Smith, Janine Rubin, Benjamin Meallet, Mario A. Forster, Richard K. Fielding, Hejtmancik J. Schorderet, Daniel F.
Copyright Year	2005
Abstract	François-Neetens fleck corneal dystrophy (CFD) is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma. Linkage analysis localized CFD to a 24-cM (18-Mb) interval of chromosome 2q35 flanked by D2S2289 and D2S126 and containing PIP5K3. PIP5K3 is a member of the phosphoinositide 3-kinase family and regulates the sorting and traffic of peripheral endosomes that contain lysosomally directed fluid phase cargo, by controlling the morphogenesis and function of multivesicular bodies. Sequencing analysis disclosed missense, frameshift, and/or protein-truncating mutations in 8 of 10 families with CFD that were studied, including 2256delA, 2274delCT, 2709C→T (R851X), 3120C→T (Q988X), IVS19-1G→C, 3246G→T (E1030X), 3270C→T (R1038X), and 3466A→G (K1103R). The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting.
Related Links	http://dx.doi.org/10.1086/431346
Ending Page	63
Page Count	10
Starting Page	54
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	1
Volume Number	77
Language	English
Publisher	American Society of Human Genetics
Publisher Date	2005-07-01
Access Restriction	Open
Rights Holder	American Society of Human Genetics
Subject Keyword	Genetics(clinical) Genetics 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

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

The Phosphoinositide Kinase PIKfyve Is Vital in Early Embryonic Development PREIMPLANTATION LETHALITY OF PIKfyve−/− EMBRYOS BUT NORMALITY OF PIKfyve+/− MICE

Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

A novel PIKFYVE mutation in fleck corneal dystrophy

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

Similar Documents

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

The Phosphoinositide Kinase PIKfyve Is Vital in Early Embryonic Development PREIMPLANTATION LETHALITY OF PIKfyve−/− EMBRYOS BUT NORMALITY OF PIKfyve+/− MICE

Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

A novel PIKFYVE mutation in fleck corneal dystrophy

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy