Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

Autor: Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Electronic address: neerja17aiims@gmail.com., Gothwal S; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Satpathy AK; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Missaglia S; CRIBENS-Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart, Milan, Italy., Tavian D; CRIBENS-Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart, Milan, Italy; Psychology Department, Catholic University of the Sacred Heart, Milan, Italy., Das P; Department of Pathology, All India Institute of Medical Sciences, New Delhi, India., Timila D; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Jazyk: angličtina
Zdroj: Gene [Gene] 2016 Jan 10; Vol. 575 (2 Pt 1), pp. 359-62. Date of Electronic Publication: 2015 Sep 06.
DOI: 10.1016/j.gene.2015.09.004
Abstrakt: Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.
(Copyright © 2015 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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