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Homozygous truncating PTPRF mutation causes athelia

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Homozygous truncating PTPRF mutation causes athelia. / Borck, Guntram; de Vries, Liat; Wu, Hsin-Jung; Smirin-Yosef, Pola; Nürnberg, Gudrun; Lagovsky, Irina; Ishida, Luis Henrique; Thierry, Patrick; Wieczorek, Dagmar; Nürnberg, Peter; Foley, John; Kubisch, Christian; Basel-Vanagaite, Lina.

in: HUM GENET, Jahrgang 133, Nr. 8, 01.08.2014, S. 1041-7.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Borck, G, de Vries, L, Wu, H-J, Smirin-Yosef, P, Nürnberg, G, Lagovsky, I, Ishida, LH, Thierry, P, Wieczorek, D, Nürnberg, P, Foley, J, Kubisch, C & Basel-Vanagaite, L 2014, 'Homozygous truncating PTPRF mutation causes athelia', HUM GENET, Jg. 133, Nr. 8, S. 1041-7. https://doi.org/10.1007/s00439-014-1445-1

APA

Borck, G., de Vries, L., Wu, H-J., Smirin-Yosef, P., Nürnberg, G., Lagovsky, I., Ishida, L. H., Thierry, P., Wieczorek, D., Nürnberg, P., Foley, J., Kubisch, C., & Basel-Vanagaite, L. (2014). Homozygous truncating PTPRF mutation causes athelia. HUM GENET, 133(8), 1041-7. https://doi.org/10.1007/s00439-014-1445-1

Vancouver

Borck G, de Vries L, Wu H-J, Smirin-Yosef P, Nürnberg G, Lagovsky I et al. Homozygous truncating PTPRF mutation causes athelia. HUM GENET. 2014 Aug 1;133(8):1041-7. https://doi.org/10.1007/s00439-014-1445-1

Bibtex

@article{02ba4817e76b485294e94160debd9d46,
title = "Homozygous truncating PTPRF mutation causes athelia",
abstract = "Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape. Using homozygosity mapping after single nucleotide polymorphism (SNP) array genotyping and candidate gene sequencing we identified a homozygous frameshift mutation in PTPRF as the likely cause of nipple anomalies in this family. PTPRF encodes a receptor-type protein phosphatase that localizes to adherens junctions and may be involved in the regulation of epithelial cell-cell contacts, peptide growth factor signaling, and the canonical Wnt pathway. Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region.",
keywords = "Adolescent, Adult, Animals, Breast, Cells, Cultured, Child, Child, Preschool, Congenital Abnormalities, Female, Fibroblasts, Frameshift Mutation, Gene Expression Profiling, Genome-Wide Association Study, Homozygote, Humans, Infant, Male, Mice, Nipples, Pedigree, Polymorphism, Single Nucleotide, Receptor-Like Protein Tyrosine Phosphatases, Class 2",
author = "Guntram Borck and {de Vries}, Liat and Hsin-Jung Wu and Pola Smirin-Yosef and Gudrun N{\"u}rnberg and Irina Lagovsky and Ishida, {Luis Henrique} and Patrick Thierry and Dagmar Wieczorek and Peter N{\"u}rnberg and John Foley and Christian Kubisch and Lina Basel-Vanagaite",
year = "2014",
month = aug,
day = "1",
doi = "10.1007/s00439-014-1445-1",
language = "English",
volume = "133",
pages = "1041--7",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "8",

}

RIS

TY - JOUR

T1 - Homozygous truncating PTPRF mutation causes athelia

AU - Borck, Guntram

AU - de Vries, Liat

AU - Wu, Hsin-Jung

AU - Smirin-Yosef, Pola

AU - Nürnberg, Gudrun

AU - Lagovsky, Irina

AU - Ishida, Luis Henrique

AU - Thierry, Patrick

AU - Wieczorek, Dagmar

AU - Nürnberg, Peter

AU - Foley, John

AU - Kubisch, Christian

AU - Basel-Vanagaite, Lina

PY - 2014/8/1

Y1 - 2014/8/1

N2 - Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape. Using homozygosity mapping after single nucleotide polymorphism (SNP) array genotyping and candidate gene sequencing we identified a homozygous frameshift mutation in PTPRF as the likely cause of nipple anomalies in this family. PTPRF encodes a receptor-type protein phosphatase that localizes to adherens junctions and may be involved in the regulation of epithelial cell-cell contacts, peptide growth factor signaling, and the canonical Wnt pathway. Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region.

AB - Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape. Using homozygosity mapping after single nucleotide polymorphism (SNP) array genotyping and candidate gene sequencing we identified a homozygous frameshift mutation in PTPRF as the likely cause of nipple anomalies in this family. PTPRF encodes a receptor-type protein phosphatase that localizes to adherens junctions and may be involved in the regulation of epithelial cell-cell contacts, peptide growth factor signaling, and the canonical Wnt pathway. Together with previous reports on female mutant Ptprf mice, which have a lactation defect, and disruption of one allele of PTPRF by a balanced translocation in a woman with amastia, our results indicate a key role for PTPRF in the development of the nipple-areola region.

KW - Adolescent

KW - Adult

KW - Animals

KW - Breast

KW - Cells, Cultured

KW - Child

KW - Child, Preschool

KW - Congenital Abnormalities

KW - Female

KW - Fibroblasts

KW - Frameshift Mutation

KW - Gene Expression Profiling

KW - Genome-Wide Association Study

KW - Homozygote

KW - Humans

KW - Infant

KW - Male

KW - Mice

KW - Nipples

KW - Pedigree

KW - Polymorphism, Single Nucleotide

KW - Receptor-Like Protein Tyrosine Phosphatases, Class 2

U2 - 10.1007/s00439-014-1445-1

DO - 10.1007/s00439-014-1445-1

M3 - SCORING: Journal article

C2 - 24781087

VL - 133

SP - 1041

EP - 1047

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 8

ER -