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Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
Hum Genet. 2003 Feb; 112(2):124-30.HG

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 Xq12-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)(q11q28)] 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 Xq11 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 (Z(max)) 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.

Authors+Show Affiliations

Dipartimento di Patologia Generale, Facoltà di Medicina e Chirurgia, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 7, 80138 Naples, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12522552

Citation

Piluso, Giulio, et al. "Genetic Heterogeneity of FG Syndrome: a Fourth Locus (FGS4) Maps to Xp11.4-p11.3 in an Italian Family." Human Genetics, vol. 112, no. 2, 2003, pp. 124-30.
Piluso G, Carella M, D'Avanzo M, et al. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Hum Genet. 2003;112(2):124-30.
Piluso, G., Carella, M., D'Avanzo, M., Santinelli, R., Carrano, E. M., D'Avanzo, A., D'Adamo, A. P., Gasparini, P., & Nigro, V. (2003). Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. Human Genetics, 112(2), 124-30.
Piluso G, et al. Genetic Heterogeneity of FG Syndrome: a Fourth Locus (FGS4) Maps to Xp11.4-p11.3 in an Italian Family. Hum Genet. 2003;112(2):124-30. PubMed PMID: 12522552.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. AU - Piluso,Giulio, AU - Carella,Massimo, AU - D'Avanzo,Michele, AU - Santinelli,Raffaele, AU - Carrano,Elena Maria, AU - D'Avanzo,Angelo, AU - D'Adamo,Adamo Pio, AU - Gasparini,Paolo, AU - Nigro,Vincenzo, Y1 - 2002/11/13/ PY - 2002/07/17/received PY - 2002/10/02/accepted PY - 2003/1/11/pubmed PY - 2003/2/27/medline PY - 2003/1/11/entrez SP - 124 EP - 30 JF - Human genetics JO - Hum Genet VL - 112 IS - 2 N2 - 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 Xq12-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)(q11q28)] 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 Xq11 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 (Z(max)) 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. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/12522552/Genetic_heterogeneity_of_FG_syndrome:_a_fourth_locus__FGS4__maps_to_Xp11_4_p11_3_in_an_Italian_family_ L2 - https://dx.doi.org/10.1007/s00439-002-0863-7 DB - PRIME DP - Unbound Medicine ER -