Homozygous truncating PTPRF mutation causes athelia

Guntram Borck, Liat De Vries, Hsin Jung Wu, Pola Smirin-Yosef, Gudrun Nürnberg, Irina Lagovsky, Luis Henrique Ishida, Patrick Thierry, Dagmar Wieczorek, Peter Nürnberg, John Foley, Christian Kubisch, Lina Basel-Vanagaite

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1041-1047
Number of pages7
JournalHuman Genetics
Volume133
Issue number8
DOIs
StatePublished - 2014

Fingerprint

Nipples
Mutation
Eyebrows
Ectodermal Dysplasia
Adherens Junctions
Frameshift Mutation
Wnt Signaling Pathway
Phosphoprotein Phosphatases
Lactation
Single Nucleotide Polymorphism
Absent breasts and nipples
Intercellular Signaling Peptides and Proteins
Epithelial Cells
Alleles
Peptides
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Borck, G., De Vries, L., Wu, H. J., Smirin-Yosef, P., Nürnberg, G., Lagovsky, I., ... Basel-Vanagaite, L. (2014). Homozygous truncating PTPRF mutation causes athelia. Human Genetics, 133(8), 1041-1047. https://doi.org/10.1007/s00439-014-1445-1

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: Human Genetics, Vol. 133, No. 8, 2014, p. 1041-1047.

Research output: Contribution to journalArticle

Borck, G, De Vries, L, Wu, HJ, 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', Human Genetics, vol. 133, no. 8, pp. 1041-1047. https://doi.org/10.1007/s00439-014-1445-1
Borck G, De Vries L, Wu HJ, Smirin-Yosef P, Nürnberg G, Lagovsky I et al. Homozygous truncating PTPRF mutation causes athelia. Human Genetics. 2014;133(8):1041-1047. https://doi.org/10.1007/s00439-014-1445-1
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. / Homozygous truncating PTPRF mutation causes athelia. In: Human Genetics. 2014 ; Vol. 133, No. 8. pp. 1041-1047.
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