Review Question - QID 3117

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Osteochondroma & Multiple Hereditary Exostosis QID: 3117 (OBQ10.29)

QID 3117 (Type "3117" in App Search)

A defect of which of the following genes is associated with an increased risk of chondrosarcoma and is inherited in an autosomal dominant manner?

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PHEX

139/3899

PMP-22

235/3899

SYT-SSX

289/3899

GNAS-1

271/3899

EXT-1

76%

2946/3899

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The defect in the EXT-1 gene results in multiple hereditary exostoses, which is an autosomal dominant gene. This gene is associated with a 10% risk of malignant transformation to chondrosarcoma.

Jager et al performed a prospective case series on 52 patients with MHE to see if there is a correlation between genotype and phenotype. Their findings included that there were more individuals with >10 exostoses in EXT-1 individuals than in EXT-2, and that all patients had at least one joint with >10 degrees restriction of ROM. Slightly over 60% of the individuals had undergone surgery for their condition.

Incorrect Answers:
1: X-linked hypophosphatemic rickets is caused by a mutation in the PHEX gene.
2: PMP-22 is a gene associated with Charcot-Marie-Tooth disease, a neurologic condition.
3: SYT-SSX is the gene associated with synovial sarcoma
4: GNAS-1 is involved in McCune-Albright Syndrome.