Literature DB >> 9450188

Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.

E I Arthur1, J Zlotogora, I Lerer, J Dagan, K Marks, D Abeliovich.   

Abstract

An association between the rare condition of transient neonatal diabetes mellitus and either uniparental disomy for chromosome 6 or dup(6)(q22q23) raised the assumption that in this location on chromosome 6 there is an imprinted gene. We diagnosed diabetes that developed in a baby girl immediately after birth and resolved after 7 weeks of insulin treatment. Due to some minor dysmorphic features, we investigated her karyotype and identified invdup(6)(q22q23). The duplication spans at least 10 cM including the DNA sites DS270,S314,S1684 and S310. This case further supports the assumption that an imprinted gene exists on chromosome 6q22-23.

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9450188

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  14 in total

1.  Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Authors:  D Kotzot; M J Martinez; G Bagci; S Basaran; A Baumer; F Binkert; L Brecevic; C Castellan; K Chrzanowska; F Dutly; A Gutkowska; S B Karaüzüm; M Krajewska-Walasek; G Luleci; P Miny; M Riegel; S Schuffenhauer; H Seidel; A Schinzel
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

Review 2.  New insights into the genetics of neonatal diabetes.

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

3.  Recurrent Trisomies: Chance or Inherited Predisposition?

Authors:  J E Ulm
Journal:  J Genet Couns       Date:  1999-04       Impact factor: 2.537

4.  Regulation of cardiomyocyte Glut4 expression by ZAC1.

Authors:  Michael P Czubryt; Lise Lamoureux; Angela Ramjiawan; Bernard Abrenica; Jaganmohan Jangamreddy; Kristin Swan
Journal:  J Biol Chem       Date:  2010-04-02       Impact factor: 5.157

Review 5.  Role of DNA methylation in imprinting disorders: an updated review.

Authors:  Amr Rafat Elhamamsy
Journal:  J Assist Reprod Genet       Date:  2017-03-09       Impact factor: 3.412

6.  Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.

Authors:  R J Gardner; A J Mungall; I Dunham; J C Barber; J P Shield; I K Temple; D O Robinson
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

7.  Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort.

Authors:  Salah Azzi; Theo C J Sas; Yves Koudou; Yves Le Bouc; Jean-Claude Souberbielle; Patricia Dargent-Molina; Irène Netchine; Marie-Aline Charles
Journal:  Epigenetics       Date:  2013-12-06       Impact factor: 4.528

8.  A soluble class II cytokine receptor, IL-22RA2, is a naturally occurring IL-22 antagonist.

Authors:  W Xu; S R Presnell; J Parrish-Novak; W Kindsvogel; S Jaspers; Z Chen; S R Dillon; Z Gao; T Gilbert; K Madden; S Schlutsmeyer; L Yao; T E Whitmore; Y Chandrasekher; F J Grant; M Maurer; L Jelinek; H Storey; T Brender; A Hammond; S Topouzis; C H Clegg; D C Foster
Journal:  Proc Natl Acad Sci U S A       Date:  2001-07-31       Impact factor: 11.205

9.  Differential expression pattern of ZAC in developing mouse and human pancreas.

Authors:  Xiaoyu Du; Marylene Rousseau; Houria Ounissi-Benkalha; Luc Marchand; Arif Jetha; Steven Paraskevas; Cynthia Goodyer; Constantin Polychronakos
Journal:  J Mol Histol       Date:  2011-02-09       Impact factor: 2.611

10.  Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

Authors:  S Das; C M Lese; M Song; J L Jensen; L A Wells; B L Barnoski; J A Roseberry; J M Camacho; D H Ledbetter; R E Schnur
Journal:  Am J Hum Genet       Date:  2000-10-18       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.