Prenatal diagnosis and carrier screening for fragile X by PCR

Brown, W. Ted; Nolin, Sarah L.; Houck, George E.; Ding, Xiaohua; Li, Shu‐Yun; Stark‐Houck, Sandra L.; Brophy, Patricia; Duncan, Charlotte J.; Dobkin, Carl; Jenkins, Ed

doi:10.1002/(sici)1096-8628(19960712)64:1<191::aid-ajmg34>3.3.co;2-g

Cited by 24 publications

(31 citation statements)

References 5 publications

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“…One such program at the New York State Institute for Basic Research screened over a 3-year period 344 pregnant women with family histories of mental retardation. 111 Among these women, two had full mutations and four had premutations (defined as Ͼ55 repeats). Another program at the Genetics & IVF Institute in Fairfax, Virginia, offered fragile X carrier screening to women on a self-pay basis.…”

Section: Population Testing Syndrome Screeningmentioning

confidence: 99%

FMR1 and the fragile X syndrome: Human genome epidemiology review

Crawford

Acuña

Sherman

2001

Genetics in Medicine

578

391

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The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located at Xq27.3. The fragile X CGG repeat has four forms: common (6 -40 repeats), intermediate (41-60 repeats), premutation (61-200 repeats), and full mutation (Ͼ200 -230 repeats). Population-based studies suggest that the prevalence of the full mutation, the disorder-causing form of the repeat, ranges from 1/3,717 to 1/8,918 Caucasian males in the general population.The full mutation is also found in other racial/ethnic populations; however, few population-based studies exist for these populations. No population-based studies exist for the full mutation in a general female population. In contrast, several large, population-based studies exist for the premutation or carrier form of the disorder, with prevalence estimates ranging from 1/246 to 1/468 Caucasian females in the general population. For Caucasian males, the prevalence of the premutation is~1/1,000. Like the full mutation, little information exists for the premutation in other populations. Although no effective cure or treatment exists for the fragile X syndrome, all persons affected with the syndrome are eligible for early intervention services. The relatively high prevalence of the premutation and full mutation genotypes coupled with technological advances in genetic testing make the fragile X syndrome amenable to screening. The timing as well as benefits and harms associated with the different screening strategies are the subject of current research and discussion. Genet Med 2001:3(5):359 -371.

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Section: Population Testing Syndrome Screeningmentioning

confidence: 99%

FMR1 and the fragile X syndrome: Human genome epidemiology review

Crawford

Acuña

Sherman

2001

Genetics in Medicine

578

391

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“…These figures are comparable to the rates found in other studies (e.g. Brown et al 1996). The non-normal allele distribution in the whole sample, with the modal peak at 30 repeats, but additional smaller peaks at 20 and 23 repeats (see Figure 1), was also in line with other studies.…”

Section: Genotypingmentioning

confidence: 99%

Investigating the Relationship Between FMR1 Allele Length and Cognitive Ability in Children: A Subtle Effect of the Normal Allele Range on the Normal Ability Range?

Loat¹,

Craig²,

Plomin³

et al. 2006

Annals of Human Genetics

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SummaryThe FMR1 gene contains a trinucleotide repeat tract which can expand from a normal size of around 30 repeats to over 200 repeats, causing mental retardation (Fragile X Syndrome). Evidence suggests that premutation males (55-200 repeats) are susceptible to a late-onset tremor/ataxia syndrome and females to premature ovarian failure, and that intermediate alleles (∼ 41-55 repeats) and premutations may be in excess in samples with special educational needs. We explored the relationship between FMR1 allele length and cognitive ability in 621 low ability and control children assessed at 4 and 7 years, as well as 122 students with high IQ. The low and high ability and control samples showed no between-group differences in incidence of longer alleles. In males there was a significant negative correlation between allele length and non-verbal ability at 4 years (p = 0.048), academic achievement in maths (p = 0.003) and English (p = 0.011) at 7 years, and IQ in the high ability group (p = 0.018). There was a significant negative correlation between allele length and a standardised score for IQ and general cognitive ability at age 7 in the entire male sample (p = 0.002). This suggests that, within the normal spectrum of allele length, increased repeat numbers may have a limiting influence on cognitive performance.

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“…Brown and co-workers 106 reported results of testing for FXS in different groups. From 1992 to 1995, 344 pregnant women with a family history of learning difficulty of unknown cause were tested.…”

Section: Testing Of High-risk Pregnant Womenmentioning

confidence: 99%

Screening for fragile X syndrome: a literature review and modelling study

Song

Barton²,

Sleightholme³

et al. 2003

Health Technol Assess

102

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Prenatal diagnosis and carrier screening for fragile X by PCR

Cited by 24 publications

References 5 publications

FMR1 and the fragile X syndrome: Human genome epidemiology review

FMR1 and the fragile X syndrome: Human genome epidemiology review

Investigating the Relationship Between FMR1 Allele Length and Cognitive Ability in Children: A Subtle Effect of the Normal Allele Range on the Normal Ability Range?

Screening for fragile X syndrome: a literature review and modelling study

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