A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

Hatice Koçak Eker; Süleyman Ersin Ünlü; Fatema Al-Salmi; Andrew H. Crosby

doi:10.1016/j.ejmg.2014.03.006

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

Hatice Koçak Eker^*, Süleyman Ersin Ünlü, Fatema Al-Salmi, Andrew H. Crosby

^*Corresponding author for this work

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

14 Citations (Scopus)

Abstract

Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.

Original language	English
Pages (from-to)	275-278
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	57
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2014.03.006
Publication status	Published - May 2014
Externally published	Yes

Keywords

ALS2 gene
IAHSP

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1016/j.ejmg.2014.03.006

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title = "A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis",

abstract = "Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.",

keywords = "ALS2 gene, IAHSP",

author = "{Ko{\c c}ak Eker}, Hatice and {\"U}nl{\"u}, {S{\"u}leyman Ersin} and Fatema Al-Salmi and Crosby, {Andrew H.}",

year = "2014",

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volume = "57",

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T1 - A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

AU - Koçak Eker, Hatice

AU - Ünlü, Süleyman Ersin

AU - Al-Salmi, Fatema

AU - Crosby, Andrew H.

PY - 2014/5

Y1 - 2014/5

N2 - Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.

AB - Autosomal recessive early onset forms of motor neuron disorders including infantile-onset ascending hereditary spastic paraplegia (OMIM #. 607225) are due to homozygous mutations in the ALS2 gene. Here, we report on a novel splice-site mutation of the ALS2 (c.2351+2C>A) in four children of a consanguineous union with infantile-onset ascending hereditary spastic paraplegia.

KW - ALS2 gene

KW - IAHSP

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ER -

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

Abstract

Keywords

ASJC Scopus subject areas

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