Restudy of the original marker X family

Lubs, Herbert A.; Watson, Michael S.; Breg, R; Lujan, Enrique

doi:10.1002/ajmg.1320170108

Cited by 30 publications

(19 citation statements)

References 2 publications

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“…Peripheral blood lymphocytes were cultured in medium 199 with 2% fetal calf serum as previously described (Lubs, Watson, Breg, & Lujan, 1984). Not all residents of the institution were screened for the syndrome.…”

Section: Subjectsmentioning

confidence: 99%

A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism

Paul

Dykens

Leckman

et al. 1987

J Autism Dev Disord

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Fragile X syndrome is a recently identified form of mental retardation that is associated with a chromosomal abnormality and inherited in an X-linked manner. Previous studies have suggested that distinctive speech and language characteristics are associated with the syndrome. Twelve adult male residents of an institution for the retarded (aged 23 to 51 years) were compared on a series of speech and language measures to 12 adult males with nonspecific forms of MR who were residents of the same institution and were matched on age and IQ. A second contrast group consisted of similarly matched autistic men. Results revealed that there were no significant differences among the groups' performance, with the exception of increased rates of echolalia in the autistic group. A nonsignificant trend toward poorer performance on expressive measures on the part of the fragile X group was noted. The implications of these findings for further research on the syndrome are discussed.

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Section: Subjectsmentioning

confidence: 99%

A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism

Paul

Dykens

Leckman

et al. 1987

J Autism Dev Disord

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“…Thus, the identity between the fragile X and Martin-Bell syndromes was formally established. Likewise, Lubs did a follow-up study on the family of his patients and found that they had the Martin-Bell syndrome with macroorchidism [Lubs et al, 1984].…”

Section: The Fragile Xmentioning

confidence: 96%

Sixty tears of X-linked mental retardation: A historical footnote

Neri

Opitz

2000

Am. J. Med. Genet.

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X-linked mental retardation (XLMR) is a most exciting field of modern medical genetics. It made spectacular advances over the last twenty years, after the advent of molecular genetics. The discovery of the FMR1 gene unraveled the cause of the most common form of heritable mental retardation and provided the prototype of dynamic mutations. New genes continue to be mapped to the X chromosome and more and more are being cloned and characterized, clarifying the nosology of XLMR and, more importantly, adding to our understanding of the mechanisms of intellectual development, normal and abnormal. Looking back to a more or less recent past may provide clues for future discoveries.

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“…A prominent example of this type of shifting diagnostic criteria is Fragile-X syndrome, which was originally described as a non-syndromic form of ID. 62,63 Furthermore, some mutations can give rise to both non-syndromic and syndromic ID, depending on their nature or location within the gene (for examples see e.g., Ropers and Hamel 64 ). One line of investigation could examine correlations between different mutations in ZC3H14 and the severity of ID or specific accompanying clinical features.…”

Section: Disclosure Of Potential Conflicts Of Interestmentioning

confidence: 99%

New kid on the ID block

Kelly¹,

Pak²,

Garshasbi³

et al. 2012

RNA Biology

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Polyadenosine RNA binding proteins (Pabs) play critical roles in regulating the polyadenylation, nuclear export, stability and translation of cellular RNAs. Although most Pabs are ubiquitously expressed and are thought to play general roles in post-transcriptional regulation, mutations in genes encoding these factors have been linked to tissue-specific diseases including muscular dystrophy and now intellectual disability (ID). Our recent work defined this connection to ID, as we showed that mutations in the gene encoding the ubiquitously expressed Cys 3 His tandem zinc-finger (ZnF) Pab, ZC3H14 (Zinc finger protein, CCCH-type, number 14) are associated with non-syndromic autosomal recessive intellectual disability (NS-ARID). This study provided a first link between defects in Pab function and a brain disorder, suggesting that ZC3H14 plays a required role in regulating RNAs in nervous system cells. Here we highlight key questions raised by our study of ZC3H14 and its ortholog in the fruit fly Drosophila melanogaster, dNab2 and comment on future approaches that could provide insights into the cellular and molecular roles of this class of zinc fingercontaining Pabs. We propose a summary model depicting how ZC3H14-type Pabs might play particularly important roles in neuronal RNA metabolism.

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Restudy of the original marker X family

Cited by 30 publications

References 2 publications

A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism

A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism

Sixty tears of X-linked mental retardation: A historical footnote

New kid on the ID block

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