A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant

Nimrod Sachs; Oded Wechsberg; Yuval E. Landau; Irit Krause; Ifat Israel Elgali; Malak Darawshe; Noam Shomron; Gabriel Lidzbarsky; Naama Orenstein

doi:10.1016/j.gene.2023.147483

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant

Nimrod Sachs^*, Oded Wechsberg, Yuval E. Landau, Irit Krause, Ifat Israel Elgali, Malak Darawshe, Noam Shomron, Gabriel Lidzbarsky, Naama Orenstein

^*Corresponding author for this work

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

2 Scopus citations

Abstract

Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by hyperammonemia. She was diagnosed with Citrin deficiency after a thorough biochemical and molecular analysis including amino acid profile, DNA sequencing of genes of interest and RNA splice site evaluation, to reveal a yet unknown damaging variant of the SLC25A13 gene.

Original language	English
Article number	147483
Journal	Gene
Volume	874
DOIs	https://doi.org/10.1016/j.gene.2023.147483
State	Published - 20 Jul 2023

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title = "A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant",

abstract = "Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by hyperammonemia. She was diagnosed with Citrin deficiency after a thorough biochemical and molecular analysis including amino acid profile, DNA sequencing of genes of interest and RNA splice site evaluation, to reveal a yet unknown damaging variant of the SLC25A13 gene.",

author = "Nimrod Sachs and Oded Wechsberg and Landau, {Yuval E.} and Irit Krause and Elgali, {Ifat Israel} and Malak Darawshe and Noam Shomron and Gabriel Lidzbarsky and Naama Orenstein",

note = "Publisher Copyright: {\textcopyright} 2023 Elsevier B.V.",

year = "2023",

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doi = "10.1016/j.gene.2023.147483",

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T1 - A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant

AU - Sachs, Nimrod

AU - Wechsberg, Oded

AU - Landau, Yuval E.

AU - Krause, Irit

AU - Elgali, Ifat Israel

AU - Darawshe, Malak

AU - Shomron, Noam

AU - Lidzbarsky, Gabriel

AU - Orenstein, Naama

PY - 2023/7/20

Y1 - 2023/7/20

N2 - Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by hyperammonemia. She was diagnosed with Citrin deficiency after a thorough biochemical and molecular analysis including amino acid profile, DNA sequencing of genes of interest and RNA splice site evaluation, to reveal a yet unknown damaging variant of the SLC25A13 gene.

AB - Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by hyperammonemia. She was diagnosed with Citrin deficiency after a thorough biochemical and molecular analysis including amino acid profile, DNA sequencing of genes of interest and RNA splice site evaluation, to reveal a yet unknown damaging variant of the SLC25A13 gene.

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VL - 874

JO - Gene

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A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant

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