| NDP gene mutations in 14 French families with Norrie disease. | |
| | |
MedLine Citation:
|
PMID: 14635119 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c.112C>T (p.Arg38Cys), c.129C>G (p.His43Gln), c.133G>A (p.Val45Met), c.268C>T (p.Arg90Cys), c.382T>C (p.Cys128Arg), c.23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype. |
| | |
Authors:
|
Ghislaine Royer; Sylvain Hanein; Valérie Raclin; Nadine Gigarel; Jean-Michel Rozet; Arnold Munnich; Julie Steffann; Jean-Louis Dufier; Josseline Kaplan; Jean-Paul Bonnefont |
Related Documents
:
|
17103449 - Sudden infant death in a patient with fgfr3 p250r mutation. 19817279 - Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventin... 11556849 - Connexin 26 studies in patients with sensorineural hearing loss. 10878669 - A de novo missense mutation in a critical domain of the x-linked ddp gene causes the ty... 8794099 - Genetics of deafness. 19186249 - Mouse models for human hereditary deafness. 11678779 - Polymorphisms of cyp2a6 and its practical consequences. 18694329 - Zebrafish wnt9b synteny and expression during first and second arch, heart, and pectora... 9714439 - Phenotype of the fibroblast growth factor receptor 2 ser351cys mutation: pfeiffer syndr... |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Human mutation Volume: 22 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2003 Dec |
Date Detail:
|
Created Date: 2003-11-24 Completed Date: 2004-01-26 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
|
Languages: eng Pagination: 499 Citation Subset: IM |
Copyright Information:
|
Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
|
Department of Genetics, Necker Hospital, Paris, France. |
| Data Bank Information | |
Bank Name/Acc. No.:
|
OMIM/310600 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
genetics*,
pathology Adolescent Adult Blindness / congenital* Child Child, Preschool DNA / chemistry, genetics DNA Mutational Analysis Deafness / pathology Diagnosis, Differential Eye Proteins / genetics* Family Health Female France Humans Infant Male Mental Retardation / pathology Middle Aged Mutation* Mutation, Missense Nerve Tissue Proteins / genetics* Pedigree Phenotype Retina / pathology* Sequence Deletion |
| Chemical | |
Reg. No./Substance:
|
0/Eye Proteins; 0/NDP protein, human; 0/Nerve Tissue Proteins; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Next Document: Conserved structural elements in glutathione transferase homologues encoded in the genome of Escheri...