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TCIRG1 ‐Associated Congenital Neutropenia
dc.contributor.authorMakaryan, Vahagnen_US
dc.contributor.authorRosenthal, Elisabeth A.en_US
dc.contributor.authorBolyard, Audrey Annaen_US
dc.contributor.authorKelley, Merideth L.en_US
dc.contributor.authorBelow, Jennifer E.en_US
dc.contributor.authorBamshad, Michael J.en_US
dc.contributor.authorBofferding, Kathryn M.en_US
dc.contributor.authorSmith, Joshua D.en_US
dc.contributor.authorBuckingham, Katien_US
dc.contributor.authorBoxer, Laurence A.en_US
dc.contributor.authorSkokowa, Juliaen_US
dc.contributor.authorWelte, Karlen_US
dc.contributor.authorNickerson, Deborah A.en_US
dc.contributor.authorJarvik, Gail P.en_US
dc.contributor.authorDale, David C.en_US
dc.date.accessioned2014-07-03T14:41:36Z
dc.date.availableWITHHELD_13_MONTHSen_US
dc.date.available2014-07-03T14:41:36Z
dc.date.issued2014-07en_US
dc.identifier.citationMakaryan, Vahagn; Rosenthal, Elisabeth A.; Bolyard, Audrey Anna; Kelley, Merideth L.; Below, Jennifer E.; Bamshad, Michael J.; Bofferding, Kathryn M.; Smith, Joshua D.; Buckingham, Kati; Boxer, Laurence A.; Skokowa, Julia; Welte, Karl; Nickerson, Deborah A.; Jarvik, Gail P.; Dale, David C. (2014). " TCIRG1 ‐Associated Congenital Neutropenia." Human Mutation 35(7): 824-827.en_US
dc.identifier.issn1059-7794en_US
dc.identifier.issn1098-1004en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/107566
dc.description.abstractSevere congenital neutropenia (SCN) is a rare hematopoietic disorder, with estimated incidence of 1 in 200,000 individuals of European descent, many cases of which are inherited in an autosomal dominant pattern. Despite the fact that several causal genes have been identified, the genetic basis for >30% of cases remains unknown. We report a five‐generation family segregating a novel single nucleotide variant (SNV) in TCIRG1 . There is perfect cosegregation of the SNV with congenital neutropenia in this family; all 11 affected, but none of the unaffected, individuals carry this novel SNV. Western blot analysis show reduced levels of TCIRG1 protein in affected individuals, compared to healthy controls. Two unrelated patients with SCN, identified by independent investigators, are heterozygous for different, rare, highly conserved, coding variants in TCIRG1 . Model of VATPase showing that TClRGl protein is it's largest component. Homozygous mutations of TClRGl are a known cause of osteopetrosis. Heterozygous mutation of p.Arg736Ser in TClRGl is now associated with congenital neutropenia, presumable by impairing the differentiation or maturation or myeloid cells in the bone marrow.en_US
dc.publisherNational Center for Biotechnology Informationen_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherV‐ATPaseen_US
dc.subject.otherTCIRG1en_US
dc.subject.otherCongenital Neutropeniaen_US
dc.subject.otherSCNen_US
dc.titleTCIRG1 ‐Associated Congenital Neutropeniaen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.subject.hlbtoplevelScienceen_US
dc.description.peerreviewedPeer Revieweden_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/107566/1/humu22563-sup-0001-figure.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/107566/2/humu22563.pdf
dc.identifier.doi10.1002/humu.22563en_US
dc.identifier.sourceHuman Mutationen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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