Chanarin Dorfman syndrome: a case report with novel nonsense mutation.
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.
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Electronic address: neerja17aiims@gmail.com.
Neerja
N
Gupta
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sunil
S
Gothwal
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Amit Kumar
AK
Satpathy
CRIBENS-Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University of the Sacred Heart, Milan, Italy.
S
S
Missaglia
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.
D
D
Tavian
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Prasenjit
P
Das
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Dipsal
D
Timila
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Madhulika
M
Kabra
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics* / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology
D018389:Codon, Nonsense; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human
ABHD5 mutation; Chanarin Dorfman syndrome; Ichthyosis; Lipid storage disorder; Liver involvement