Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene

Hilal Al Mandhari; Buthaina Al-Musalhi; Nouh Al Mahroqi; Hilde T. Hilmarsen; Geir J. Braathen; Denis Khnykin

doi:10.1111/ijd.15367

Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene

Hilal Al Mandhari^*, Buthaina Al-Musalhi, Nouh Al Mahroqi, Hilde T. Hilmarsen, Geir J. Braathen, Denis Khnykin

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Abstract

Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.

Original language	English
Pages (from-to)	368-371
Number of pages	4
Journal	International Journal of Dermatology
Volume	60
Issue number	3
DOIs	https://doi.org/10.1111/ijd.15367
Publication status	Published - Mar 2021
Externally published	Yes

ASJC Scopus subject areas

Dermatology

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title = "Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene",

abstract = "Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.",

author = "{Al Mandhari}, Hilal and Buthaina Al-Musalhi and {Al Mahroqi}, Nouh and Hilmarsen, {Hilde T.} and Braathen, {Geir J.} and Denis Khnykin",

note = "Publisher Copyright: {\textcopyright} 2020 the International Society of Dermatology",

year = "2021",

month = mar,

doi = "10.1111/ijd.15367",

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T1 - Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene

AU - Al Mandhari, Hilal

AU - Al-Musalhi, Buthaina

AU - Al Mahroqi, Nouh

AU - Hilmarsen, Hilde T.

AU - Braathen, Geir J.

AU - Khnykin, Denis

PY - 2021/3

Y1 - 2021/3

N2 - Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.

AB - Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.

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ER -

Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene

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