Harlekiniktyose med mutation i ABCA12-genet

Lærke Heidam Juul Andersen; Louise Kelstrup; Tina Elisabeth Olsen; Morten Dunø; Finn Stener Jørgensen

Harlekiniktyose med mutation i ABCA12-genet

Lærke Heidam Juul Andersen, Louise Kelstrup, Tina Elisabeth Olsen, Morten Dunø, Finn Stener Jørgensen

1 Citationer (Scopus)

Abstract

Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.

Bidragets oversatte titel	Harlequin ichthyosis with a diaphragmatic hernia and a new mutation
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	180
Udgave nummer	36
Sider (fra-til)	V01180078
ISSN	0041-5782
Status	Udgivet - 3 sep. 2018

Andre filer og links

Link to publication in Scopus

Citationsformater

@article{b40d7d7e03db4e2b87124eec3f453bcd,

title = "Harlekiniktyose med mutation i ABCA12-genet",

abstract = "Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121\_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.",

author = "Andersen, \{L{\ae}rke Heidam Juul\} and Louise Kelstrup and Olsen, \{Tina Elisabeth\} and Morten Dun{\o} and J{\o}rgensen, \{Finn Stener\}",

year = "2018",

month = sep,

day = "3",

language = "Dansk",

volume = "180",

pages = "V01180078",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "36",

}

TY - JOUR

T1 - Harlekiniktyose med mutation i ABCA12-genet

AU - Andersen, Lærke Heidam Juul

AU - Kelstrup, Louise

AU - Olsen, Tina Elisabeth

AU - Dunø, Morten

AU - Jørgensen, Finn Stener

PY - 2018/9/3

Y1 - 2018/9/3

N2 - Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.

AB - Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.

UR - https://www.scopus.com/pages/publications/85058838470

M3 - Tidsskriftartikel

C2 - 30187851

SN - 0041-5782

VL - 180

SP - V01180078

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 36

ER -

Harlekiniktyose med mutation i ABCA12-genet

Abstract

Andre filer og links

Fingeraftryk

Citationsformater