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Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC.
Hum Mutat. 2002 Jan; 19(1):83-4.HM

Abstract

Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternatively spliced region of exon 9 (1042C-->T), which results in a stop signal. This mutation manifested an aggressive form of FAP with onset of symptoms in one proband at age 17. Our results differ from reported exon 9 mutations in the spliced-out portion of the gene manifesting an attentuated form of FAP (AAPC) [Varesco et al 1994; van der Luijt et al. 1995; Curia et al. 1998; Young et al. 1998]. When analyzing this family, we encountered a mutant FAP gene which had undergone a second mutational event, a deletion. In addition to linkage analysis, both the occurrence of the two exon 9 mutation-carrier siblings, of which one is affected, harboring the same novel deletion in one generation of this family, and its absence in both parents indicates the existence of maternal germ-line mosaicism for cells bearing the latter second mutational event. Our study is only the second report of parental mosaicism in the APC gene.

Authors+Show Affiliations

Molecular Oncology Laboratory, Rambam Medical Center, Haifa, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11754114

Citation

Davidson, Sima, et al. "Maternal Mosaicism for a Second Mutational Event--a Novel Deletion--in a Familial Adenomatous Polyposis Family Harboring a New Germ-line Mutation in the Alternatively Spliced-exon 9 Region of APC." Human Mutation, vol. 19, no. 1, 2002, pp. 83-4.
Davidson S, Leshanski L, Rennert G, et al. Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC. Hum Mutat. 2002;19(1):83-4.
Davidson, S., Leshanski, L., Rennert, G., Eidelman, S., & Amikam, D. (2002). Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC. Human Mutation, 19(1), 83-4.
Davidson S, et al. Maternal Mosaicism for a Second Mutational Event--a Novel Deletion--in a Familial Adenomatous Polyposis Family Harboring a New Germ-line Mutation in the Alternatively Spliced-exon 9 Region of APC. Hum Mutat. 2002;19(1):83-4. PubMed PMID: 11754114.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC. AU - Davidson,Sima, AU - Leshanski,Lucy, AU - Rennert,Gad, AU - Eidelman,Shmuel, AU - Amikam,Dorit, PY - 2001/12/26/pubmed PY - 2002/2/13/medline PY - 2001/12/26/entrez SP - 83 EP - 4 JF - Human mutation JO - Hum. Mutat. VL - 19 IS - 1 N2 - Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternatively spliced region of exon 9 (1042C-->T), which results in a stop signal. This mutation manifested an aggressive form of FAP with onset of symptoms in one proband at age 17. Our results differ from reported exon 9 mutations in the spliced-out portion of the gene manifesting an attentuated form of FAP (AAPC) [Varesco et al 1994; van der Luijt et al. 1995; Curia et al. 1998; Young et al. 1998]. When analyzing this family, we encountered a mutant FAP gene which had undergone a second mutational event, a deletion. In addition to linkage analysis, both the occurrence of the two exon 9 mutation-carrier siblings, of which one is affected, harboring the same novel deletion in one generation of this family, and its absence in both parents indicates the existence of maternal germ-line mosaicism for cells bearing the latter second mutational event. Our study is only the second report of parental mosaicism in the APC gene. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11754114/Maternal_mosaicism_for_a_second_mutational_event__a_novel_deletion__in_a_familial_adenomatous_polyposis_family_harboring_a_new_germ_line_mutation_in_the_alternatively_spliced_exon_9_region_of_APC_ L2 - https://doi.org/10.1002/humu.9006 DB - PRIME DP - Unbound Medicine ER -