Genetic heterogeneity of FG syndrome: A fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

Giulio Piluso, Massimo Carella, Michele D'Avanzo, Raffaele Santinelli, Elena Maria Carrano, Angelo D'Avanzo, Adamo Pio D'Adamo, Paolo Gasparini, Vincenzo Nigro

Research output: Contribution to journalArticlepeer-review

Abstract

FG syndrome (FGS, MIM 305450) is a rare X-linked recessive disorder comprising mental retardation and multiple malformations. Various families have been described to date, increasing our knowledge of the phenotype variability and making the clinical diagnosis complex, especially in sporadic patients. The first locus for FG syndrome (FGS1) was linked to chromosome region Xql2-q21.31, but other families have been excluded from this locus. The genetic heterogeneity of FG syndrome has been confirmed by analysis of an X chromosome inversion [inv(X)(qllq28)] in an affected boy and in his mentally retarded maternal uncle, suggesting that an additional locus for FG syndrome (FGS2, MIM 300321) is located at either Xqll or Xq28. Recently, a third locus (FGS3) has been mapped to Xp22.3. We have identified and clinically characterized an Italian FG family, including 31 members with three affected males in two generations and two obligate carriers. We have excluded linkage to known FGS loci, whereas an extensive study of the whole X chromosome has yielded a maximum LOD score (Zmax) of 2.66 (recombination fraction=0) for markers between DXS8113 and sWXD805. This new locus for FG syndrome corresponds to a region of approximately 4.6 Mb on the X chromosome.

Original languageEnglish
Pages (from-to)124-130
Number of pages7
JournalHuman Genetics
Volume112
Issue number2
Publication statusPublished - Feb 2003

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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