Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

M J Abramowicz; M Andrien; E Dupont; H Dorchy; J Parma; L Duprez; F D Ledley; W Courtens; E Vamos

doi:10.1172/JCI117339

Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Department of Genetics, University Hospital Erasme, Brussels, Belgium.

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Published in Volume 94, Issue 1 on July 1, 1994
J Clin Invest. 1994;94(1):418–421. https://doi.org/10.1172/JCI117339.
© 1994 The American Society for Clinical Investigation

Published July 1, 1994 - Version history

Isodisomy (ID) is a genetic anomaly defined as the inheritance of two copies of the same genetic material from one parent. ID in an offspring is a rare cause of recessive genetic diseases via inheritance of two copies of a mutated gene from one carrier parent. We studied a newborn female with a mut(o) of methylmalonic acidemia and complete absence of insulin-producing beta cells in otherwise normal-appearing pancreatic islets, causing insulin-dependent diabetes mellitus. The patient died 2 wk after birth. Serotyping of the HLA antigens, DNA typing of HLA-B and HLA class II loci, study of polymorphic DNA markers of chromosome 6, and cytogenetic analysis demonstrated paternal ID, involving at least a 25-centiMorgan portion of the chromosome pair that encompasses the MHC. ID probably caused methylmalonic acidemia by duplication of a mutated allele of the corresponding gene on the chromosome 6 inherited from the father. It is also very likely that ID was etiologically related to the agenesis of beta cells and consequent insulin-dependent diabetes mellitus in our patient. We thus speculate on the existence of a gene on chromosome 6 involved in beta cell differentiation.

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Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

M J Abramowicz, M Andrien, E Dupont, H Dorchy, J Parma, L Duprez, F D Ledley, W Courtens, and E Vamos

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Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

M J Abramowicz, M Andrien, E Dupont, H Dorchy, J Parma, L Duprez, F D Ledley, W Courtens, and E Vamos

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