Literature DB >> 8842729

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.

I K Temple1, R J Gardner, D O Robinson, M S Kibirige, A W Ferguson, J D Baum, J C Barber, R S James, J P Shield.   

Abstract

Transient neonatal diabetes mellitus (TNDM) is a rare form of childhood diabetes which usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult onset. We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TNDM and proposed that there may be an imprinted gene important in the aetiology of diabetes on chromosome 6. We now describe two unrelated families which independently suggest that the gene is imprinted, is paternally expressed and maps to 6q22-q23. One family has a duplication while the other, with familial TNDM, shows linkage to a marker in this region.

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Year:  1996        PMID: 8842729     DOI: 10.1093/hmg/5.8.1117

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  43 in total

Review 1.  New insights into the genetics of neonatal diabetes.

Authors:  Constantin Polychronakos
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.

Authors:  C Diatloff-Zito; A Nicole; G Marcelin; H Labit; E Marquis; C Bellanné-Chantelot; J J Robert
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

3.  Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

Authors:  A U López-Gutiérrez; L Riba; M L Ordoñez-Sánchez; S Ramírez-Jiménez; M Cerrillo-Hinojosa; M T Tusié-Luna
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

4.  Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Authors:  J C Barber; C A Joyce; M N Collinson; J C Nicholson; L R Willatt; H M Dyson; M S Bateman; A J Green; J R Yates; N R Dennis
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

5.  Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Authors:  B Pirola; L Bortotto; S Giglio; E Piovan; A Janes; R Guerrini; O Zuffardi
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

6.  Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

Authors:  M L Whiteford; A Narendra; M P White; A Cooke; A G Wilkinson; K J Robertson; J L Tolmie
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

7.  Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Authors:  J Mitchell; Z Punthakee; B Lo; C Bernard; K Chong; C Newman; L Cartier; V Desilets; E Cutz; I L Hansen; P Riley; C Polychronakos
Journal:  Diabetologia       Date:  2004-12-08       Impact factor: 10.122

Review 8.  Medical care from childhood to adulthood in type 1 and type 2 diabetes.

Authors:  G Costi; S Ten; N K Maclaren
Journal:  J Endocrinol Invest       Date:  2001-10       Impact factor: 4.256

Review 9.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

10.  Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report.

Authors:  Matthew B Lanktree; I George Fantus; Robert A Hegele
Journal:  J Med Case Rep       Date:  2009-08-12
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