TY - JOUR
T1 - The gene for glycogen-storage disease type lb maps to chromosome 11q23
AU - Annabi, Borhane
AU - Hiraiwa, Hisayuki
AU - Mansfield, Brian C.
AU - Lei, Ke Jian
AU - Ubagai, Tsuneyuki
AU - Polymeropoulos, Mihael H.
AU - Moses, Shimon W.
AU - Parvari, Ruti
AU - Hershkovitz, Eli
AU - Mandel, Hanna
AU - Fryman, Moshe
AU - Chou, Janice Yang
PY - 1998/1/1
Y1 - 1998/1/1
N2 - Glycogen-storage disease type 1 (GSD-1), also known as 'von Gierke disease,' is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.
AB - Glycogen-storage disease type 1 (GSD-1), also known as 'von Gierke disease,' is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.
UR - http://www.scopus.com/inward/record.url?scp=17344372507&partnerID=8YFLogxK
U2 - 10.1086/301727
DO - 10.1086/301727
M3 - Article
C2 - 9463334
AN - SCOPUS:17344372507
VL - 62
SP - 400
EP - 405
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -