A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Research Abstract Details 

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A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Abstract Text:

Childhood SMAs are common neuromuscular disorders, due to the occurrence of large genomic deletions encompassing the SMN gene and often extending to involve the NAIP gene. Although NAIP deletions are more frequently observed in patients affected by the acute form of the disease, it is not possible to establish an unambiguous correlation between deletion size and clinical severity. We have investigated the effects of gender on the association between NAIP gene deletion and disease severity. NAIP deletions were screened in 197 Italian SMA patients lacking SMN; the results obtained were correlated with disease severity in male and female samples separately. No significant relationship between deletion size and clinical phenotype was observed among male subjects, whereas in females the absence of NAIP was strongly associated with a severe phenotype (p <0.0001). These results provide a possible molecular explanation for the sex-dependent phenotype variation observed in SMA patients.

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Publishing Authors By Initials

For similar genetic phenomena: variation (genetics) research abstracts see: genetic phenomena: variation (genetics) research

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A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neurogenetics

VOLUME: 1

Page Numbers: 29-30

Journal Abbreviation: Neurogenetics

ISSN: 1364-6745

DAY: 14

MONTH: May

YEAR: 1997

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Information

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LANGUAGE: eng

NlmUniqueID: 9709714

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Keywords Mesh Terms:

KEYWORDS: Variation (Genetics)

MESH TERMS: genetics

Chemical & Substance for Abstract: A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation. Information

Substance Name: SMN protein (spinal muscular atrophy)

Registry Number: 0

Grant and Affiliation Information for A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.

AFFILIATION: Cattedra di Genetica Umana, Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy. novelli@tovvx1.ccd.utovrm.it

Country: ENGLAND

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MEDLINETA: Neurogenetics

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