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MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1
Author(s) -
Balasubramanian Karthika,
Li Bing,
Krakow Deborah,
Nevarez Lisette,
Ho Patric J.,
Ainsworth Julia A.,
Nickerson Deborah A.,
Bamshad Michael J.,
Immken LaDonna,
Lachman Ralph S.,
Cohn Daniel H.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38349
Subject(s) - missense mutation , genetics , phenotype , biology , exome sequencing , gene , spinal osteoarthropathy , locus heterogeneity , genetic heterogeneity , paleontology
Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early‐onset osteoarthropathy. Dominantly inherited mutations in COMP , MATN3 , COL9A1 , COL9A2 , and COL9A3 , and recessively inherited mutations in SLC26A2 , account for the molecular basis of disease in about 80–85% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in CANT1 , which encodes calcium‐activated nucleotidase 1. The MED phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED.