지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 409 - 415 (7page)
이용수
초록· 키워드
오류제보하기
The fragile X mental retardation 1 (FMR1) gene is the only gene known responsible for fragile X related disorders, including fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency, and fragile X-associated tremor/ataxia. Although FMR1 premutation carriers are common, double mutations of the FMR1 gene is very rare. To our knowledge, only twelve such reports including twenty-three cases from fourteen families have been documented. We report here another family with a FXS family history in which the proband’s maternal grandmother had compound FMR1 gene premutations and we review twelve published papers associated with double allelic mutations. Our study and literature review indicated that compound premutations may have influences regarding the early onset of fragile X-associated primary ovarian insufficiency and severity of psychiatric issues, and less likely aggravate the cognitive deficits compared with one allele mutant patients. Further detailed studies of similar cases are needed to clarify the profile of double FMR1 premutaions.
목차
등록된 정보가 없습니다.
참고문헌 (30)
참고문헌 신청
Basuta K / 2011 / Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation / Am J Med Genet A 155A:519~525
Basuta K / 2013 / A family with two female siblings with compound heterozygous FMR1 premutation alleles / Clin Genet 85:458~463
Brown WT / 1993 / Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test / JAMA-J Am Med Assoc 270:1569~1575
De Caro JJ / 2008 / Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency / Ann N Y Acad Sci 1135:99~111
Finucane B / 2012 / Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors / J Genet Couns 21:752~760
Basuta K / 2013 / A family with two female siblings with compound heterozygous FMR1 premutation alleles / Clin Genet 85:458~463
Brown WT / 1993 / Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test / JAMA-J Am Med Assoc 270:1569~1575
De Caro JJ / 2008 / Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency / Ann N Y Acad Sci 1135:99~111
Finucane B / 2012 / Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors / J Genet Couns 21:752~760
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