Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

We report twenty‐two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice‐site, three insertion/deletion and ten nonsense or frameshift mutations. A sub‐set...

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Bibliographic Details
Published in:Human mutation 2001-11, Vol.18 (5), p.458-458
Main Authors: Hamlington, Jeanette D., Jones, Cheron, McIntosh, Iain
Format: Article
Language:English
Subjects:
Codon, Nonsense - genetics
DNA Mutational Analysis
Frameshift Mutation - genetics
haploinsufficiency
homeodomain
Homeodomain Proteins - chemistry
Homeodomain Proteins - genetics
Humans
LIM domain
LIM-Homeodomain Proteins
LMX1B
Mutation - genetics
Mutation, Missense - genetics
Nail Patella Syndrome
Nail-Patella Syndrome - genetics
NPS
Protein Structure, Tertiary
Transcription Factors
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Summary:We report twenty‐two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice‐site, three insertion/deletion and ten nonsense or frameshift mutations. A sub‐set of five recurrent mutations within the homeodomain represents over one‐quarter of the described NPS mutations. The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B. © Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.1217