title: HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases.
abstract: Insulin-dependent neonatal diabetes mellitus (NDM) is a rare form of diabetes with a heterogeneous genetic background. The HLA-DRB1 and DQB1 genotypes were determined for 13 patients with NDM, from 9 unrelated families. Four patients had permanent NDM (PNDM) and 9 patients had transient NDM (TNDM). No excess of HLA susceptibility markers for type 1 diabetes (IDDM) was observed in this series of patients, whatever the forms of diabetes PNDM or TNDM. Paternal isodisomy of chromosome 6 was observed in two TNDM cases. These observations are consistent with the current hypothesis that there is a recessive susceptibility gene, at least in the transient form of the disease, unlinked to the MHC locus on chromosome 6. Although established in a short series, our results do not support an additive role of IDDM1 in the progression of the disease.
authors.affiliation: Inserm U383, Université de Paris V, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Marquis
authors.forename: I
authors.initials: I
authors.lastname: Le Monnier de Gouville
authors.forename: C
authors.initials: C
authors.lastname: Bouvattier
authors.forename: J J
authors.initials: JJ
authors.lastname: Robert
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: D
authors.initials: D
authors.lastname: Charron
authors.forename: J
authors.initials: J
authors.lastname: Hors
authors.forename: C
authors.initials: C
authors.lastname: Diatloff-Zito
mesh_terms: D000483:Alleles; D002896:Chromosomes, Human, Pair 6; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains