Population incidence and segregation ratios in the Martin‐Bell syndrome

Webb, T.; Bundey, Sarah; Thake, A; Todd, J

doi:10.1002/ajmg.1320230151

Cited by 156 publications

(55 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…FMR1, which contains two KH domains [4,5] is of particular interest since mutations of the gene cause fragile X syndrome, the most frequent cause of mental retardation in humans, affecting 1 in 1250 males and 30% of female carriers [6][7][8]. The KH domain is sometimes present in large numbers: 8 in yeast scpl60 and 14 in vigilin, the highest number so far [9,10].…”

Section: Introductionmentioning

confidence: 99%

The KH module has an αβ fold

Morelli¹,

Stier²,

Gibson³

et al. 1995

FEBS Letters

View full text Add to dashboard Cite

The KH module has recently been identified in a number of RNA associated proteins including vigilin and FMR1, a protein implicated in the fragile X syndrome. In this work, NMR spectroscopy was used to determine the secondary structure in solution of a KH domain (repeat 5 from vigilin). Almost complete assignments were obtained for the ~H and ~SN resonances using uniform ~SN-labeling of the protein combined with homo-nuclear 2D ~HNMR and 3D lSN correlated ~H NMR. On the basis of NOE patterns, secondary chemical shifts and amide solvent exposure, the secondary structure consists of an antiparallel three stranded fl sheet connected by two helical regions. This domain may also be stabilized by an appended C-terminal helix which is common to many but not all members of the KH family.

show abstract

Section: Introductionmentioning

confidence: 99%

The KH module has an αβ fold

Morelli¹,

Stier²,

Gibson³

et al. 1995

FEBS Letters

View full text Add to dashboard Cite

show abstract

“…FXS (FXS) is one of the most prevalent genetic causes of MR, representing the most frequent form of inherited severe cognitive deficit, second only to Down syndrome as a genetic cause of MR. It is estimated that the FXS affects approximately 1 in 2,500 individuals (1)(2)(3)(4).The syndrome is inherited as an X-linked dominant trait with reduced penetrance 80% in males and 30% in females (5). According to studies conducted in Iran the frequency of FXS have been reported to be 63% (6).…”

Section: Introductionmentioning

confidence: 99%

A survey of patients with mental retardation of unknown origin

Yarmohammadi

Keshavarzi

Farhadian

2016

JBRMS

View full text Add to dashboard Cite

Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who were clinically suspicious to have FXS were screened for FXS by using cytogenetic and molecular methods. Blood samples were collected and cultured in specific culture media. G-Banding method was used for karyotyping. To ensure correct results of cytogenetic testing, four suspected case of FXS were tested by PCR. Results were analyzed using logistic regression analysis. Results: Four patients (4%) were found to express fragile X site at q27.3. The results showed that the relationship of FXS with familial, economic status was not significant, but the relationship of FXS with MR and family history was significant. Conclusion:The frequency of FXS positive cases found in this study is similar to other reports of FXS in preselected patients.

show abstract

“…Its worldwide prevalence is about 1 in 3600 men and 1 in 8000 women (Turner et al, 1996;Kooy et al, 2000), and it is considered of great epidemiologic importance among men with mental disabilities (Webb et al, 1986). FMR1 mutation is characterized by increased trinucleotide CGG repetitions in the 5'-untranslated region of the gene (Fu et al, 1991).…”

Section: Introductionmentioning

confidence: 99%

Short Communication Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil

Viveiros¹,

Santos²,

Santos³

et al. 2015

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intellectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations. One had a mutation due to expansion of the CGG M.T.M. Viveiros et al. 6898©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 6897-6905 (2015) repeat beyond normal levels and the other had a deletion in exon 1 of the FMR1 gene, which was confirmed by sequencing. Both probands were over 18 years old, which demonstrates the late diagnosis of the condition in these individuals and reinforces the need to implement effective programs for early diagnosis of FXS in the state of Maranhão. We found that FXS might be transmitted in the families of the two individuals bearing the mutation, and that it is important to understand the mutation dynamics to provide better counseling to the family members of these two individuals.

show abstract

Population incidence and segregation ratios in the Martin‐Bell syndrome

Cited by 156 publications

References 6 publications

The KH module has an αβ fold

The KH module has an αβ fold

A survey of patients with mental retardation of unknown origin

Short Communication Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil

Contact Info

Product

Resources

About