Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

Mazurczak, Tadeusz; Bocian, Ewa; Milewski, Michał; Obersztyn, Ewa; Stańczak, H; Bal, Jerzy; Szamotulska, Katarzyna; Karwacki, Marek W.

doi:10.1002/(sici)1096-8628(19960712)64:1<184::aid-ajmg32>3.3.co;2-e

Cited by 6 publications

(7 citation statements)

References 2 publications

(2 reference statements)

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“…This is close to the frequency reported for the African-American population (1 in 2,545) (Crawford et al, 2001). Studies in Caucasian populations have given different frequencies, but the results were very diverse (Jacobs et al, 1993;Slaney et al, 1995;Mazurczak et al, 1996;Millan et al, 1999;Youings et al, 2000). Our result is within the confidence limits of a study of Caucasians in the United States (95% C.L., 1/7,692-1,869) (Crawford et al, 2001), and of another study in an Hellenic population from Greece and Cyprus (95% C.L., 1/16,440-1/1,333) (Patsalis et al, 1999).…”

Section: Discussionsupporting

confidence: 87%

Incidence of Fragile X in 5,000 Consecutive Newborn Males

Rifé

Badenas²,

Mallolas³

et al. 2003

Genetic Testing

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Fragile X syndrome (FXS) is the commonest cause of inherited mental retardation in males. Even though this affirmation is repeated in virtually all papers referring to FXS, the precise frequency of this syndrome in the general population is unknown. We present a general population screening analyzing an anonymous series of 5,000 consecutive newborn males from the neonatal screening program of the population of Catalonia in Spain. The aim of the study is to determine the incidence of FXS via a simple and economical methodology based on the nonamplification of the fragment containing the CGG repeats of the FRAXA locus in the samples carrying alleles over 52 repeats. From the initial 5,000 samples, 4,920 were in the normal range, 15 gave rise to bands with more than 52 repeats (11 corresponded to intermediate alleles and four premutated alleles). After further studies, two samples were considered to be carriers of full mutations. According to these results, the incidence of FXS affected newborn males is 1 in 2,466, and 1 in 1,233 males is a carrier of the premutation. We can deduce that 1 in 8,333 is an affected female with clinical manifestations and 1 in 411 will be a premutation carrier woman. Upon reviewing the literature, there seems to be variability in the frequencies found by the different groups. Therefore, given that our study is limited to the Catalan population in Spain, these results should be taken as valid for the Catalan region and should only be extrapolated to other populations with caution.

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Section: Discussionsupporting

confidence: 87%

Incidence of Fragile X in 5,000 Consecutive Newborn Males

Rifé

Badenas²,

Mallolas³

et al. 2003

Genetic Testing

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“…The prevalence of the fragile X syndrome in our population is considerably lower that the previously reported prevalence of 1:1 000–1:2 600 males [1,2] obtained by cytogenetic analysis, but are in agreement with more recent reports based on molecular studies of 1:4 000–1:6 000 males [9–11]. With respect to the Spanish population, only a few studies have been carried out [3,12] and they were performed in special education schools population and with a previously selected sample.…”

Section: Distribution Of Fragile‐x Cases Its Frequency (In Parenthessupporting

confidence: 90%

Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain

Millán¹,

Martı́nez²,

Cadroy³

et al. 1999

Clinical Genetics

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“…The confidence limits, available for only four of these studies, vary widely, with a lower boundary of 1 in 1,333 40 to an upper boundary of 1 in 8,922. 41 Three studies summarized in Table 1 did not report point estimates: two 42,43 provided a range and one 44 provided a lower boundary, all of which fall within the point estimates and confidence intervals reported in the other studies ( Table 1).…”

Section: Full Mutation and Males: Caucasian Populations Of Northern Esupporting

confidence: 85%

FMR1 and the fragile X syndrome: Human genome epidemiology review

Crawford

Acuña

Sherman

2001

Genetics in Medicine

573

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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Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

Cited by 6 publications

References 2 publications

Incidence of Fragile X in 5,000 Consecutive Newborn Males

Incidence of Fragile X in 5,000 Consecutive Newborn Males

Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain

FMR1 and the fragile X syndrome: Human genome epidemiology review

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