Homozygous truncating PTPRF mutation causes athelia

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art_BORCK_Homozygous_truncating_PTPRF_mutation_causes_athelia_2014.PDF (749.91 KB)
Citações na Scopus
6
Tipo de produção
article
Data de publicação
2014
DOI
Scopus
Web of Science
Título da Revista
ISSN da Revista
Título do Volume
Editora
SPRINGER
Autores
BORCK, Guntram
VRIES, Liat de
WU, Hsin-Jung
SMIRIN-YOSEF, Pola
NUERNBERG, Gudrun
LAGOVSKY, Irina
THIERRY, Patrick
WIECZOREK, Dagmar
NUERNBERG, Peter
Citação
HUMAN GENETICS, v.133, n.8, p.1041-1047, 2014
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
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URI
https://observatorio.fm.usp.br/handle/OPI/8720
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICHC