Borck, Guntram, de Vries, Liat, Wu, Hsin-Jung, Smirin-Yosef, Pola, Nuernberg, Gudrun, Lagovsky, Irina, Ishida, Luis Henrique, Thierry, Patrick, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Nuernberg, Peter, Foley, John, Kubisch, Christian ORCID: 0000-0003-4220-0978 and Basel-Vanagaite, Lina (2014). Homozygous truncating PTPRF mutation causes athelia. Hum. Genet., 133 (8). S. 1041 - 1048. NEW YORK: SPRINGER. ISSN 1432-1203

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Borck, GuntramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Vries, LiatUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, Hsin-JungUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smirin-Yosef, PolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, GudrunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lagovsky, IrinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ishida, Luis HenriqueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thierry, PatrickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wieczorek, DagmarUNSPECIFIEDorcid.org/0000-0003-2812-6492UNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Foley, JohnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kubisch, ChristianUNSPECIFIEDorcid.org/0000-0003-4220-0978UNSPECIFIED
Basel-Vanagaite, LinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-433307
DOI: 10.1007/s00439-014-1445-1
Journal or Publication Title: Hum. Genet.
Volume: 133
Number: 8
Page Range: S. 1041 - 1048
Date: 2014
Publisher: SPRINGER
Place of Publication: NEW YORK
ISSN: 1432-1203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PROTEIN-TYROSINE PHOSPHATASES; MAMMARY-GLAND; INSULIN-RESISTANCE; LAR; RECEPTOR; BREAST; EXPRESSION; NIPPLE; DIFFERENTIATION; INHIBITIONMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/43330

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