Ontology highlight
ABSTRACT:
SUBMITTER: McDermott DH
PROVIDER: S-EPMC2974587 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
McDermott David H DH De Ravin Suk See SS Jun Hyun Sik HS Liu Qian Q Priel Debra A Long DA Noel Pierre P Takemoto Clifford M CM Ojode Teresa T Paul Scott M SM Dunsmore Kimberly P KP Hilligoss Dianne D Marquesen Martha M Ulrick Jean J Kuhns Douglas B DB Chou Janice Y JY Malech Harry L HL Murphy Philip M PM
Blood 20100708 15
Mutations in more than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathologic mechanisms of most genetic defects are not fully defined. Deficiency of G6PC3, a glucose-6-phosphatase, causes a rare multisystem syndrome with SCN first described in 2009. We identified a family with 2 children with homozygous G6PC3 G260R mutations, a loss of enzymatic function, and typical syndrome features with the exception that their bone marrow biopsy pathology revealed abund ...[more]