TY - JOUR
T1 - A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
AU - Elsayed, Solaf Mohamed
AU - Torre, Enza
AU - Tavian, Daniela
AU - Moro, Laura
AU - Angelini, Corrado
AU - Abdel Ghaffar, Tawhida Y.
AU - Zalata, Khalid
AU - Fahmy, Enas Ezzeldein
AU - Missaglia, Sara
PY - 2023
Y1 - 2023
N2 - Chanarin Dorfman Syndrome is a rare autosomal recessive disorder, characterized by triacylglycerol (TG) accumulation in lipid droplets (LDs) within different tissues including skin, liver, skeletal muscle, bone marrow, eyes, ears, and central nervous system. Here, we describe a novel ABHD5 frameshift mutation, associated with a severe manifestation of CDS. We report a severe multisystemic involvement in two patients, and an unusual neurological manifestation in one of them. In CDS, as well as in other genetic disorders, the genotype–phenotype correlation cannot completely explain clinical variability.
AB - Chanarin Dorfman Syndrome is a rare autosomal recessive disorder, characterized by triacylglycerol (TG) accumulation in lipid droplets (LDs) within different tissues including skin, liver, skeletal muscle, bone marrow, eyes, ears, and central nervous system. Here, we describe a novel ABHD5 frameshift mutation, associated with a severe manifestation of CDS. We report a severe multisystemic involvement in two patients, and an unusual neurological manifestation in one of them. In CDS, as well as in other genetic disorders, the genotype–phenotype correlation cannot completely explain clinical variability.
KW - ABHD5
KW - Chanarin Dorfman syndrome
KW - lipid droplet
KW - non-bullous congenital ichthyosiform erythroderma
KW - ABHD5
KW - Chanarin Dorfman syndrome
KW - lipid droplet
KW - non-bullous congenital ichthyosiform erythroderma
UR - http://hdl.handle.net/10807/218665
U2 - 10.1016/j.gendis.2022.08.005
DO - 10.1016/j.gendis.2022.08.005
M3 - Article
SN - 2352-3042
SP - 690
EP - 693
JO - GENES & DISEASES
JF - GENES & DISEASES
ER -