Mosaicism in osteopathia striata with cranial sclerosis

Dennis J. Joseph, Shoji Ichikawa, Michael Econs

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Context: Osteopathia striata with cranial sclerosis is an X-linked dominant condition caused by mutations in the WTX gene, resulting in linear striations in long bones in combination with cranial sclerosis. This condition is usually lethal in males. Objective/Patient: Our aim was to determine the underlying genetic cause in a 37-yr-old male with this condition. Design:DNAsequencing of peripheral bloodandhairwasperformed to identify mutations inWTX. Quantitative PCR was performed to determine gene copy number variation. Results: DNA sequenced from peripheral blood revealed the presence of two alleles at the 1108th position of the WTX gene. Subsequent DNA sequencing of hair follicles and quantitative PCR confirmed the presence of mosaicism. Conclusion: A novel mutation (c.1108G>T) found in our patient results in a truncated protein (E370X). Our patient represents the first confirmed case of mosaicism in osteopathia striata with cranial sclerosis.

Original languageEnglish
Pages (from-to)1506-1507
Number of pages2
JournalJournal of Clinical Endocrinology and Metabolism
Volume95
Issue number4
DOIs
StatePublished - Apr 2010

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Mosaicism
Genes
Mutation
Polymerase Chain Reaction
Gene Order
Gene Dosage
Hair Follicle
DNA
Sclerosis
DNA Sequence Analysis
Bone
Blood
Alleles
Bone and Bones
Osteopathia striata cranial sclerosis
Proteins

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)

Cite this

Mosaicism in osteopathia striata with cranial sclerosis. / Joseph, Dennis J.; Ichikawa, Shoji; Econs, Michael.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 95, No. 4, 04.2010, p. 1506-1507.

Research output: Contribution to journalArticle

Joseph, Dennis J. ; Ichikawa, Shoji ; Econs, Michael. / Mosaicism in osteopathia striata with cranial sclerosis. In: Journal of Clinical Endocrinology and Metabolism. 2010 ; Vol. 95, No. 4. pp. 1506-1507.
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