Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

Sean B. Herman, Sarah K. Holman, Stephen P. Robertson, Lynn Davidson, Benjamin Taragin, Joy Samanich

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Osteopathia striata with cranial sclerosis (OSCS) is caused by truncating mutations or deletions in the X linked gene, WTX, and is characterized by sclerotic striations of the metaphyses and diaphyses of long bones, pelvis, and scapula, along with craniofacial hyperostosis. Females typically manifest with craniofacial dysmorphisms including macrocephaly, hypertelorism, depressed nasal bridge, and hypoplastic maxilla, often have cleft palate, and less often extra skeletal anomalies. Here we report on a sporadic female patient with OSCS born at 33 weeks, with coarse facies, an abnormal head shape, cleft palate, pyloric stenosis, a small VSD, and laryngotracheomalacia sufficiently severe to require tracheostomy placement. Characteristic radiologic findings were apparent on skeletal survey and cranial CT. At age 5, she showed mild delays in neurodevelopmental milestones. A deletion of WTX and the adjacent gene ASB12 was detected via MLPA and there was no skewing of the X-chromosome inactivation pattern (58:42). Neurodevelopmental delays can manifest in females with OSCS and deletions at the WTX locus, but deletion of the ASB12 gene in this case suggests it is unlikely to contribute to the pathogenesis of this complication. Implication of ASB12 in the patient's other unique features such as laryngotracheomalacia and pyloric stenosis is also unlikely. This case illustrates an early presentation of severe OSCS in a female without skewing of the X-chromosome inactivation pattern, emphasizing the variable expressivity of this disorder.

Original languageEnglish (US)
Pages (from-to)594-599
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number3
DOIs
StatePublished - Mar 2013

Fingerprint

Gene Deletion
Pyloric Stenosis
X Chromosome Inactivation
Cleft Palate
Megalencephaly
Hypertelorism
Hyperostosis
Diaphyses
Scapula
X-Linked Genes
Sequence Deletion
Tracheostomy
Maxilla
Pelvis
Nose
Head
Bone and Bones
Osteopathia striata cranial sclerosis
Genes

Keywords

  • Bone dysplasia
  • Osteopathia striata with cranial sclerosis
  • WTX

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. / Herman, Sean B.; Holman, Sarah K.; Robertson, Stephen P.; Davidson, Lynn; Taragin, Benjamin; Samanich, Joy.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 3, 03.2013, p. 594-599.

Research output: Contribution to journalArticle

Herman, Sean B. ; Holman, Sarah K. ; Robertson, Stephen P. ; Davidson, Lynn ; Taragin, Benjamin ; Samanich, Joy. / Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 3. pp. 594-599.
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