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Abstract
Introduction:
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is lethal in males. Females
can survive because of X-inactivation mosaicism. The most frequent mutation is a deletion of exons 4-10
of the gene, NEMO that causes IP.
Materials and Methods:
Molecular analysis was performed in 99 female patients referred for NEMO gene analysis.
Results:
The patients were first studied for the presence or absence of the exon 4-10 deletion by PCR: 46
patients carried this deletion. Upon request of the referring physician, 10 of the 53 patients without a deletion were further sequenced, and in 7 a mutation (six resulting in nonsense codons and one in a
missense codon) was found. From 30 patients with a proven mutation DNA samples from the mothers
were available for testing and in 7 of them a mutation was found (7/30 or 23%). In the end, no mutation
was found in 46/99 patients.
Conclusion:
Our results are in agreement with other studies that show that the exon 4-10 NEMO deletion is a major
mutation causing IP, and that many mutations occur de novo. However, the deletion frequency in our
patients is lower than has been described in literature (46% versus 70-90%). This can probably be
attributed to the fact that we performed deletion screening for each request for IP mutation analysis
without any selection. Clinical data are being collected to verify this hypothesis.
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is lethal in males. Females
can survive because of X-inactivation mosaicism. The most frequent mutation is a deletion of exons 4-10
of the gene, NEMO that causes IP.
Materials and Methods:
Molecular analysis was performed in 99 female patients referred for NEMO gene analysis.
Results:
The patients were first studied for the presence or absence of the exon 4-10 deletion by PCR: 46
patients carried this deletion. Upon request of the referring physician, 10 of the 53 patients without a deletion were further sequenced, and in 7 a mutation (six resulting in nonsense codons and one in a
missense codon) was found. From 30 patients with a proven mutation DNA samples from the mothers
were available for testing and in 7 of them a mutation was found (7/30 or 23%). In the end, no mutation
was found in 46/99 patients.
Conclusion:
Our results are in agreement with other studies that show that the exon 4-10 NEMO deletion is a major
mutation causing IP, and that many mutations occur de novo. However, the deletion frequency in our
patients is lower than has been described in literature (46% versus 70-90%). This can probably be
attributed to the fact that we performed deletion screening for each request for IP mutation analysis
without any selection. Clinical data are being collected to verify this hypothesis.
Original language | English |
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Title of host publication | Abstractbook of 10th Annual Meeting BeSHG |
Pages | 75 |
Number of pages | 1 |
Publication status | Published - 26 Feb 2010 |
Keywords
- NEMO gene
- Incontinentia Pigmenti
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- 5 Participation in conference
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10th Annual meeting of the Belgian Society for Human Genetics:The Dark Side of the Genome.
Willy Lissens (Participant)
26 Feb 2010Activity: Participating in or organising an event › Participation in conference
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10th Annual meeting of the Belgian Society for Human Genetics:The Dark Side of the Genome.
Ben Caljon (Participant)
26 Feb 2010Activity: Participating in or organising an event › Participation in conference
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10th Annual meeting of the Belgian Society for Human Genetics:The Dark Side of the Genome.
Sonia Van Dooren (Participant)
26 Feb 2010Activity: Participating in or organising an event › Participation in conference