A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

Bernard Grandchamp; Gilles Hetet; Caroline Kannengiesser; Claire Oudin; Carole Beaumont; Sylvie Rodrigues-Ferreira; Robert Amson; Adam Telerman; Peter Nielsen; Elisabeth Kohne; Christina Balser; Hermann Heimpel

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

Standard

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. / Grandchamp, Bernard; Hetet, Gilles; Kannengiesser, Caroline; Oudin, Claire; Beaumont, Carole; Rodrigues-Ferreira, Sylvie; Amson, Robert; Telerman, Adam; Nielsen, Peter; Kohne, Elisabeth; Balser, Christina; Heimpel, Hermann.

In: BLOOD, Vol. 118, No. 25, 25, 2011, p. 6660-6666.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Grandchamp, B, Hetet, G, Kannengiesser, C, Oudin, C, Beaumont, C, Rodrigues-Ferreira, S, Amson, R, Telerman, A, Nielsen, P, Kohne, E, Balser, C & Heimpel, H 2011, 'A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.', BLOOD, vol. 118, no. 25, 25, pp. 6660-6666. <http://www.ncbi.nlm.nih.gov/pubmed/22031863?dopt=Citation>

APA

Grandchamp, B., Hetet, G., Kannengiesser, C., Oudin, C., Beaumont, C., Rodrigues-Ferreira, S., Amson, R., Telerman, A., Nielsen, P., Kohne, E., Balser, C., & Heimpel, H. (2011). A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. BLOOD, 118(25), 6660-6666. [25]. http://www.ncbi.nlm.nih.gov/pubmed/22031863?dopt=Citation

Vancouver

Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S et al. A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. BLOOD. 2011;118(25):6660-6666. 25.

Bibtex

@article{c7e4fbd5d4234437a4ae04c5380db901,

title = "A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.",

abstract = "STEAP3/TSAP6 encodes a ferrireductase that is involved in the acquisition of iron by developing erythroblasts and steap3/tsap6 null-mice display severe microcytic anemia. We report a family in which 3 siblings born to healthy parents display transfusion-dependent hypochromic anemia. A nonsense STEAP3/TSAP6 was identified in the siblings at the heterozygous state. This mutation was inherited from their father while no mutation was found in their mother. A large variability of expression was found between normal alleles in a control population, confirming a previous report that STEAP3/TSAPS6 is an expressed quantitative trait locus (e-QTL). Determination of the relative allele expression showed that the {"}normal{"} allele was expressed at a significantly higher level in the father than in the affected siblings relative to the shared mutated allele. The blood level of STEAP3/TSAP6 mRNA was severely reduced in the siblings, while both parents were in the lower range of normal controls. The STEAP3/TSAP6 protein was also reduced in lymphocytic cell lines from the patients. Collectively, our data support the hypothesis that STEAP3/TSAP6 deficiency leads to severe anemia in the affected siblings and results from the combination of a mutated allele inherited from their father and a weakly expressed allele inherited from their mother.",

keywords = "Animals, Humans, Male, Female, Adolescent, Young Adult, Child, Cells, Cultured, Mice, Mice, Knockout, DNA Mutational Analysis, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression, Pedigree, Family Health, Blotting, Western, *Codon, Nonsense, Fibroblasts/cytology/metabolism, Cell Line, Transformed, Membrane Proteins/genetics/metabolism, Anemia, Hypochromic/blood/congenital/*genetics, Embryo, Mammalian/cytology/metabolism, Oncogene Proteins/*genetics/metabolism, RNA, Messenger/blood/genetics, Animals, Humans, Male, Female, Adolescent, Young Adult, Child, Cells, Cultured, Mice, Mice, Knockout, DNA Mutational Analysis, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression, Pedigree, Family Health, Blotting, Western, *Codon, Nonsense, Fibroblasts/cytology/metabolism, Cell Line, Transformed, Membrane Proteins/genetics/metabolism, Anemia, Hypochromic/blood/congenital/*genetics, Embryo, Mammalian/cytology/metabolism, Oncogene Proteins/*genetics/metabolism, RNA, Messenger/blood/genetics",

author = "Bernard Grandchamp and Gilles Hetet and Caroline Kannengiesser and Claire Oudin and Carole Beaumont and Sylvie Rodrigues-Ferreira and Robert Amson and Adam Telerman and Peter Nielsen and Elisabeth Kohne and Christina Balser and Hermann Heimpel",

year = "2011",

language = "English",

volume = "118",

pages = "6660--6666",

journal = "BLOOD",

issn = "0006-4971",

publisher = "American Society of Hematology",

number = "25",

}

RIS

TY - JOUR

T1 - A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

AU - Grandchamp, Bernard

AU - Hetet, Gilles

AU - Kannengiesser, Caroline

AU - Oudin, Claire

AU - Beaumont, Carole

AU - Rodrigues-Ferreira, Sylvie

AU - Amson, Robert

AU - Telerman, Adam

AU - Nielsen, Peter

AU - Kohne, Elisabeth

AU - Balser, Christina

AU - Heimpel, Hermann

PY - 2011

Y1 - 2011

N2 - STEAP3/TSAP6 encodes a ferrireductase that is involved in the acquisition of iron by developing erythroblasts and steap3/tsap6 null-mice display severe microcytic anemia. We report a family in which 3 siblings born to healthy parents display transfusion-dependent hypochromic anemia. A nonsense STEAP3/TSAP6 was identified in the siblings at the heterozygous state. This mutation was inherited from their father while no mutation was found in their mother. A large variability of expression was found between normal alleles in a control population, confirming a previous report that STEAP3/TSAPS6 is an expressed quantitative trait locus (e-QTL). Determination of the relative allele expression showed that the "normal" allele was expressed at a significantly higher level in the father than in the affected siblings relative to the shared mutated allele. The blood level of STEAP3/TSAP6 mRNA was severely reduced in the siblings, while both parents were in the lower range of normal controls. The STEAP3/TSAP6 protein was also reduced in lymphocytic cell lines from the patients. Collectively, our data support the hypothesis that STEAP3/TSAP6 deficiency leads to severe anemia in the affected siblings and results from the combination of a mutated allele inherited from their father and a weakly expressed allele inherited from their mother.

AB - STEAP3/TSAP6 encodes a ferrireductase that is involved in the acquisition of iron by developing erythroblasts and steap3/tsap6 null-mice display severe microcytic anemia. We report a family in which 3 siblings born to healthy parents display transfusion-dependent hypochromic anemia. A nonsense STEAP3/TSAP6 was identified in the siblings at the heterozygous state. This mutation was inherited from their father while no mutation was found in their mother. A large variability of expression was found between normal alleles in a control population, confirming a previous report that STEAP3/TSAPS6 is an expressed quantitative trait locus (e-QTL). Determination of the relative allele expression showed that the "normal" allele was expressed at a significantly higher level in the father than in the affected siblings relative to the shared mutated allele. The blood level of STEAP3/TSAP6 mRNA was severely reduced in the siblings, while both parents were in the lower range of normal controls. The STEAP3/TSAP6 protein was also reduced in lymphocytic cell lines from the patients. Collectively, our data support the hypothesis that STEAP3/TSAP6 deficiency leads to severe anemia in the affected siblings and results from the combination of a mutated allele inherited from their father and a weakly expressed allele inherited from their mother.

KW - Animals

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Young Adult

KW - Child

KW - Cells, Cultured

KW - Mice

KW - Mice, Knockout

KW - DNA Mutational Analysis

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Gene Expression

KW - Pedigree

KW - Family Health

KW - Blotting, Western

KW - Codon, Nonsense

KW - Fibroblasts/cytology/metabolism

KW - Cell Line, Transformed

KW - Membrane Proteins/genetics/metabolism

KW - Anemia, Hypochromic/blood/congenital/genetics

KW - Embryo, Mammalian/cytology/metabolism

KW - Oncogene Proteins/genetics/metabolism

KW - RNA, Messenger/blood/genetics