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Meier-Gorlin Syndrome 

Meier-Gorlin Syndrome
Chapter:
Meier-Gorlin Syndrome
Author(s):

Mark E. Samuels

, Cheri L. Deal

, and David L. Skidmore

DOI:
10.1093/med/9780199934522.003.0177
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date: 26 February 2021

Desbuquois dysplasia (DBQD) is a severe chondrodysplasia characterized by short stature and multiple dislocations. The main radiological features are short long bones with metaphyseal splay, a “Swedish key” appearance of the proximal femur and advanced bone age. The presence of characteristic hand anomalies, like an extra ossification center distal to the second metacarpal, defines DBQD type 1 while type 2 is characterized only by advanced carpal ossification. A milder phenotype referred to as “Kim variant” has been described based on radiological changes comprising short metacarpals and elongated phalanges. We have identified CANT1 as the disease gene of DBQD type 1. Up till now, 23 distinct CANT1 mutations have been reported. CANT1 encodes a member of the apyrase family, a soluble calcium activated nucleotidase that preferentially hydrolyzes UDP. The exact function of CANT1 is unknown, but we demonstrated its involvement in proteoglycan synthesis.

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