Mosaicism in Osteopathia Striata with Cranial Sclerosis

Joseph, Dennis; Ichikawa, Shoji; Econs, Michael J.

doi:10.1210/jc.2009-2343

Cited by 25 publications

(25 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hemizygous males demonstrate skeletal sclerosis and multiple congenital malformations affecting the heart, craniofacial structures and gastrointestinal tract 7–9. Curiously, there is no suggestion that either males or females in the 44 individuals with OSCS who have had a WTX mutation identified7 9 10 are predisposed to the development of Wilms tumours or their precursor lesions. Similarly no tumour predisposition is evident in subjects studied in retrospective surveys with the clinical diagnosis 8.…”

mentioning

confidence: 99%

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour

Fukuzawa

Holman

Chow

et al. 2010

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

mentioning

confidence: 99%

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour

Fukuzawa

Holman

Chow

et al. 2010

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…This is a rare finding infrequently reported in the literature [6]. Another spontaneous mutation (c.1108G > T) resulted in premature termination of translation, a truncated protein (E370X), and mosaicism in an OSCS patient [9]. Further elucidation of this pathway may potentially lead to strategies to enhance fusion and bone quality in patients undergoing spinal fusions especially in the setting of osteoporosis.…”

Section: Discussionmentioning

confidence: 88%

“…The facial findings give the patients a typical facial impression. The striations and thickening of the calvaria with sclerosis is due to deficits in the WTX gene and is unique from other bone pathology such as osteoporosis [9]. Radionuclide bone scan may show increased tracer uptake in the skull and tubular bones suggesting an active metabolic process.…”

Section: Discussionmentioning

confidence: 99%

Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma

et al. 2016

View full text Add to dashboard Cite

Osteopathia striata with cranial sclerosis (OSCS) is a rare but well-described pathology characterized by abnormalities in bone deposition in the axial and cranial skeleton as well as other abnormalities and associated deficits. These skeletal abnormalities can lead to significant intra-operative challenges for the surgeon and influence outcomes for the patient. In this report, we present a case of a patient with OSCS who was involved in a traumatic motor vehicle crash and underwent posterior cervico-thoracic fusion for a T4 chance fracture. Bony abnormalities in the cervico-thoracic spine presented a significant operative challenge due to alterations in bony anatomy and bone architecture. This case serves as an example of the challenges that the spine surgeon faces when dealing with OSCS, and highlights the differences between OSCS and commoner skeletal hyperplasias such as osteopetrosis.

show abstract

“…Only two other males with a WTX mosaic mutation have been described so far in the literature [Joseph et al, 2010;Holman et al, 2011]. The clinical features of males with a somatic mosaic mutation involving WTX are presented in Table I.…”

Section: Discussionmentioning

confidence: 99%

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2

Chénier

Noor

Dupuis

et al. 2012

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by mutations involving WTX (FAM123B), a tumor suppressor protein with dual functions. OSCS typically affects females whereas males generally have fetal or neonatal lethality. Surviving affected males have characteristic facial dysmorphisms, skeletal features such as macrocephaly and short stature, neurodevelopmental disabilities and a high prevalence of neuromuscular anomalies. On imaging, hemizygous males display marked cranial and peripheral skeletal sclerosis without the metaphyseal striations that are seen in women with OSCS. Observations of striation in males may be indicative of a somatic mosaic mutation in WTX. To date only two cases of surviving males haves been confirmed with mosaic point mutations in WTX. We report on the first case of a male with a mosaic deletion of the entire WTX gene. We show that a mosaic deletion in a hemizygous male patient can cause a mild phenotype of OSCS, including facial and skull base bone striations, nasal stenosis, conductive hearing loss, global developmental delay, and mild facial dysmorphology without short stature or macrocephaly.

show abstract

Mosaicism in Osteopathia Striata with Cranial Sclerosis

Abstract: 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.

Cited by 25 publications

References 7 publications

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour

Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2

Contact Info

Product

Resources

About