Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

Brown, W. Ted; Houck, George E.; Jeziorowska, Anna; Levinson, F.; Ding, Xiaohua; Dobkin, Carl; Zhong, Nan; Henderson, J.; Brooks, Susan Sklower; Jenkins, Greg

doi:10.1097/00006254-199404000-00007

Cited by 49 publications

(69 citation statements)

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“…In addition to the first degree male relatives of autistic probands noted in the Chicago cohort Autism study, there are several non-Caucasian males with the allele who may be psychiatrically ill, but do not have MR. Such incomplete penetrance has been also observed in other X-Chromosome MR syndromes including Fragile X, where approximately 20% of males carrying the mutation are unaffected 22,23 and in FRAXE, where 45% (5/11) of individuals in a series of cases were unaffected. 24 Alternatively, given our limited physical characterization of the affected individuals, we may not have identified the full spectrum of clinical presentation.…”

Section: Discussionmentioning

confidence: 65%

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Philibert¹,

Bh²,

Winfield³

et al. 1998

Mol Psychiatry

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Mental retardation is a prominent feature of many neurodevelopmental syndromes. In an attempt to identify genetic components of these illnesses, we isolated and sequenced a large number of human genomic cosmid inserts containing large trinucleotide repeats. One of these cosmids, Cos-4, maps to the X-chromosome and contains the sequence of a 7.3-kb mRNA. Initial polymorphism analysis across a region of repetitive DNA in this gene revealed a rare 12-bp exonic variation ( 1% in non-ill males) having an increased prevalence in non-Fragile X males with mental retardation (4%, P Ͻ0.04, n = 81). This variant was not present in the highly conserved mouse homologue that has 100% amino acid identity to the human sequence near the polymorphism. Subsequent screening of two additional independent cohorts of non-Fragile X mentally retarded patients and ethnically matched controls demonstrated an even higher prevalence of the 12-bp variant in males with mental retardation (8%, P Ͻ0.0003, n = 125, and 14%, P Ͻ0.10, n = 36) vs the controls. Multivariate analysis was conducted in an effort to identify other phenotypic components in affected individuals, and the findings suggested an increased incidence of histories of hypothyroidism (P Ͻ0.001) and treatment with antidepressants (P Ͻ0.001). We conclude that the presence of this 12-bp variant confers significant susceptibility for mental retardation.

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Section: Discussionmentioning

confidence: 65%

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Philibert¹,

Bh²,

Winfield³

et al. 1998

Mol Psychiatry

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“…[5][6][7][8] Other primers and methods can be used if equivalence is demonstrated. A particular region to be aware of in primer design is the deletional hotspot.…”

Section: Pcr Methodsmentioning

confidence: 99%

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Maddalena

Richards

McGinniss

et al. 2001

Genetics in Medicine

214

173

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“…Further investigation would be called for. [78][79][80][81] Other primers and methods can be used if equivalence is When a PCR strategy is used to detect full mutations, the presence of a deletion hotspot in the CGGrepeat region should be noted. 82 Primers located within the deletion hotspot may result in failure to detect the expanded allele.…”

Section: Fx 3214mentioning

confidence: 99%

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Monaghan

Lyon

Spector

2013

Genetics in Medicine

128

137

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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

Cited by 49 publications

References 0 publications

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

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