Mammary-digital-nail (MDN) syndrome: A novel phenotype maps to human chromosome 22q12.3-13.1

Mira Genzer-Nir, Morad Khayat, Leonid Kogan, Hector I. Cohen, Miriam Hershkowitz, Dan Geiger, Tzipora C. Falik-Zaccai

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1 Scopus citations


Mammary-digital-nail syndrome is a novel phenotypic association consisting of anonychia onychodystrophy with hypoplasia or absence of distal phalanges in males and females, accompanied by juvenile hypertrophy of the breast in affected females. This newly described genetic trait presents an autosomal dominant inheritance pattern, with either reduced penetrance or germ-line mosaicism. Analysis of the pedigree, linkage studies followed by a genome-wide screen and by haplotype analysis defined the locus for the phenotype within a 12 cM (4.3 Mb) interval on chromosome 22q12.3-13.1. This chromosomal region has not been implicated before in genetic disorders of the mammary tissue or limbs. These data suggest a possibly novel signaling pathway affecting the organogenesis of limbs and mammary glands in humans.

Original languageEnglish
Pages (from-to)662-667
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number6
StatePublished - Jun 2010
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported by Grant No. 5727 from the Israeli Ministry of Health, Grant No. 84\2004 from the Isvonot Foundation of the Israeli Ministry of Justice, and Grant No. 3–934 from the Israeli Ministry of Science. This work was part of the PhD dissertation of MGN. We thank Dr Esti Feldmesser and Dr Shirley Horn-Saban who operate the SNP array facility at the Weizmann Institute of Science, Israel. We also thank Dan Cohn for enlightening discussions and review of the article, Cindy Cohen and Laura Golan for editing. We acknowledge the patients and their families who participated in this study.


  • Druze
  • Familial onychodystrophy/anonychia (ODP)
  • Juvenile hypertrophy of the breast (JHB)


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