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

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3 Scopus citations


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
Issue number8
StatePublished - Aug 2014

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    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. Human genetics, 133(8), 1041-1047. https://doi.org/10.1007/s00439-014-1445-1