The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay

M. M M Mazzocco, G. F. Myers, J. L. Hammer, R. Panoscha, Bruce K Shapiro, A. L. Reiss

Research output: Contribution to journalArticle

Abstract

We examined the prevalence of the fragile X mental retardation (FMR1) full mutation and fragile X E mutation (FMR2) among preschoolers evaluated for language delay. A total of 534 preschoolers recruited from a Developmental Pediatric or Speech and Language Disorders clinic were tested with Southern blot and polymerase chain reaction DNA analyses; 3 were found to have the FMR1 full mutation. None of the 534 children tested positive for the FMR2 full mutation; however, 3 children had unusually small FMR2 alleles suggestive of FMR2 deletions. Screening for fragile X among language-delayed preschoolers is warranted, particularly when there is a family history of mental retardation, but regardless of sex or the presence of behavioral or physical features associated with the fragile X phenotype. The potential benefit of screening for FMR2 alterations is an unexpected implication of the study and is worthy of continued exploration.

Original languageEnglish (US)
Pages (from-to)795-801
Number of pages7
JournalJournal of Pediatrics
Volume132
Issue number5
DOIs
StatePublished - 1998

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Language Development Disorders
Child Language
Preschool Children
Mutation
Intellectual Disability
Southern Blotting
Language
Alleles
Pediatrics
Phenotype
Polymerase Chain Reaction
DNA

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. / Mazzocco, M. M M; Myers, G. F.; Hammer, J. L.; Panoscha, R.; Shapiro, Bruce K; Reiss, A. L.

In: Journal of Pediatrics, Vol. 132, No. 5, 1998, p. 795-801.

Research output: Contribution to journalArticle

Mazzocco, M. M M ; Myers, G. F. ; Hammer, J. L. ; Panoscha, R. ; Shapiro, Bruce K ; Reiss, A. L. / The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. In: Journal of Pediatrics. 1998 ; Vol. 132, No. 5. pp. 795-801.
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