Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Abstract:

OBJECTIVE:Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalities are the most common cause. RESEARCH DESIGN AND METHODS:We report a sporadic case of diabetes without ketoacidosis diagnosed on the fourth day of life. RESULTS:Analysis of the KCNJ11 gene found a novel R365H mutation in the proband and her unaffected father. The functional analysis did not support pathogenicity of this variant. When the patient's diabetes remitted in the seventh month of life, the 6q24 region was analyzed and a paternally inherited duplication was identified. CONCLUSIONS:Our case reports a coincidental novel KCNJ11 variant in a patient with transient neonatal diabetes due to a 6q24 duplication, illustrating the difficulty in testing neonates before the clinical course of neonatal diabetes is known.

journal_name

Diabetes Care

journal_title

Diabetes care

authors

Staník J,Lethby M,Flanagan SE,Gasperíková D,Milosovicová B,Lever M,Bullman H,Zubcevic L,Hattersley AT,Ellard S,Ashcroft FM,Klimes I

doi

10.2337/dc08-0549

subject

Has Abstract

pub_date

2008-09-01 00:00:00

pages

1736-7

issue

9

eissn

0149-5992

issn

1935-5548

pii

dc08-0549

journal_volume

31

pub_type

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