Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome

Abstract

We describe a patient with type I diabetes, clinical findings consistent with velocardiofacial syndrome, and a chromosome 22q11.2 deletion. A nine-year-old boy presented with a history of polyuria, polydipsia, weight loss, hyperglycemia, ketosis, serum insulin antibodies, and a low C-peptide level. He had distinctive facial features, learning disabilities, short stature, and a history of glottic web and clubfoot. Although a normal karyotype was obtained, fluorescence in situ hybridization (FISH) revealed a submicroscopic deletion in the DiGeorge/velocardiofacial syndrome critical region at 22q11.2. His maternal half-brother also carried a chromosome 22q11.2 deletion. His mother has similar facial features and hypoparathyroidism. Autoimmune problems associated with chromosome 22q11.2 deletions have been reported. We suggest that the defects in immune regulation due to T-cell deficiency in chromosome 22q11.2 deletion syndrome may predispose to autoimmune disorders, including type I diabetes mellitus.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

“…Although skeletal anomalies are not a defining feature of DiGeorge syndrome, rare cases of lower limb defects including talipes equinovarus have been described in chromosome 22q11 deletions. [45][46][47] Finally, we detected two individuals with Klinefelter's syndrome (XXY) who were not previously known to have this disorder. Like the other individuals in this study, these individuals presented with isolated talipes equinovarus, and are cognitively and physically normal at 45 years follow-up.…”

Hypoglycemic Efficacy of Catharanthus roseus and Opuntia ficusindica in Mice Diabetic Model

“…Regarding chromosomal abnormalities deletion syndrome due to chromosome 22q11.2 has been investigated by Elder et al, 2001.…”

“…Rebecca J Gardner et al, (1999) have previously shown that, in some cases, TNDM is associated with paternal uniparental disomy (UPD) of chromosome 6 and suggested that an imprinted gene responsible for TNDM lies within a region of chromosome 6q. By analyzing three families, two with duplications (family A and patient C) and one with several affected subjects with normal karyotypes (family B), Elder et al, (2001) have further defined the TNDM critical region. In patient A, polymorphic microsatellite repeat analysis identified a duplicated region of chromosome 6, flanked by markers D6S472 and D6S311.…”

Diabetes Mellitus and its Control by Ocimum sanctum Extract in Mice Diabetic Model

“…Insulin resistance syndrome in Asian Indians has been reviewed by AnoopMisra and Naval k. Bikram (2002). Regarding chromosomal abnormalities deletion syndrome due to chromosome 22q11.2 has been investigated by Elder et al, (2001).…”

“…Rebecca J Gardner et al, (1999) have previously shown that, in some cases, TNDM is associated with paternal uniparentaldisomy (UPD) of chromosome 6and suggested that an imprinted gene responsible for TNDM lies within a region of chromosome 6q. By analyzing three families, two with duplications (family A and patient C) and one with several affected subjects with normal karyotypes (family B), Elder et al, (2001) have further defined the TNDM critical region. In patient A, polymorphic microsatellite repeat analysis identified a duplicated region of chromosome 6, flanked by markers D6S472 and D6S311.…”