Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population

Alireza Haghighi; Jamileh Rezazadeh; Azam Ahmadi Shadmehri; Amirreza Haghighi; Ruth Kornreich; Robert J. Desnick

doi:10.1038/jhg.2011.78

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population

Alireza Haghighi, Jamileh Rezazadeh, Azam Ahmadi Shadmehri, Amirreza Haghighi, Ruth Kornreich, Robert J. Desnick

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

4 Scopus citations

Abstract

The Β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1AG >(p.MIV), which obliterated the initiating methionine in codon 1, and c.1177CT> (p.R393X), which predicted a termination codon or nonsense mutation.

Original language	English
Pages (from-to)	682-684
Number of pages	3
Journal	Journal of Human Genetics
Volume	56
Issue number	9
DOIs	https://doi.org/10.1038/jhg.2011.78
State	Published - Sep 2011
Externally published	Yes

Keywords

GM2 gangliosidosis
HEXA
Persian
TaySachs disease
lysosomal storage disorder
β-hexosaminidase A

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10.1038/jhg.2011.78

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title = "Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population",

abstract = "The Β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the HEXA alleles in both sets of related parents. Two mutations were identified: c.1AG >(p.MIV), which obliterated the initiating methionine in codon 1, and c.1177CT> (p.R393X), which predicted a termination codon or nonsense mutation.",

keywords = "GM2 gangliosidosis, HEXA, Persian, TaySachs disease, lysosomal storage disorder, β-hexosaminidase A",

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doi = "10.1038/jhg.2011.78",

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T1 - Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population

AU - Haghighi, Alireza

AU - Rezazadeh, Jamileh

AU - Shadmehri, Azam Ahmadi

AU - Haghighi, Amirreza

AU - Kornreich, Ruth

AU - Desnick, Robert J.

PY - 2011/9

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KW - lysosomal storage disorder

KW - β-hexosaminidase A

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Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population

Abstract

Keywords

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