A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

S. M. Elsayed; Enza Torre; Daniela Tavian; L. Moro; C. Angelini; Ghaffar T. Y. Abdel; K. Zalata; E. E. Fahmy; Sara Missaglia

doi:10.1016/j.gendis.2022.08.005

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

S. M. Elsayed
, Enza Torre
, Daniela Tavian
, L. Moro
, C. Angelini
, Ghaffar T. Y. Abdel
, K. Zalata
, E. E. Fahmy
, Sara Missaglia^*

^*Autore corrispondente per questo lavoro

University of Eastern Piedmont
University of Padua
Yassin Abdel Ghaffar Center for Liver Disease and Research

Risultato della ricerca: Contributo in rivista › Articolo › peer review

Abstract

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.

Lingua originale	Inglese
pagine (da-a)	690-693
Numero di pagine	4
Rivista	GENES & DISEASES
Numero di pubblicazione	N/A
DOI	https://doi.org/10.1016/j.gendis.2022.08.005
Stato di pubblicazione	Pubblicato - 2023

All Science Journal Classification (ASJC) codes

Biochimica
Biologia Molecolare
Genetica (clinica)
Biologia Cellulare

Keywords

ABHD5
Chanarin Dorfman syndrome
lipid droplet
non-bullous congenital ichthyosiform erythroderma

Accesso al documento

10.1016/j.gendis.2022.08.005

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title = "A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype",

abstract = "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.",

keywords = "ABHD5, Chanarin Dorfman syndrome, lipid droplet, non-bullous congenital ichthyosiform erythroderma, ABHD5, Chanarin Dorfman syndrome, lipid droplet, non-bullous congenital ichthyosiform erythroderma",

author = "Elsayed, \{S. M.\} and Enza Torre and Daniela Tavian and L. Moro and C. Angelini and Abdel, \{Ghaffar T. Y.\} and K. Zalata and Fahmy, \{E. E.\} and Sara Missaglia",

year = "2023",

doi = "10.1016/j.gendis.2022.08.005",

language = "English",

pages = "690--693",

journal = "GENES \& DISEASES",

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T1 - A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

AU - Elsayed, S. M.

AU - Torre, Enza

AU - Tavian, Daniela

AU - Moro, L.

AU - Angelini, C.

AU - Abdel, Ghaffar T. Y.

AU - Zalata, K.

AU - Fahmy, E. E.

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

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U2 - 10.1016/j.gendis.2022.08.005

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SN - 2352-3042

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EP - 693

JO - GENES & DISEASES

JF - GENES & DISEASES

IS - N/A

ER -

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

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