The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells

Journal Article · Fri Aug 09 04:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<302::AID-AJMG14>3.0.CO;2-J· OSTI ID:478886

Graaf, E de; Vries, B B.A. de; Willemsen, R ^[1]

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1. Erasmus Univ., Rotterdam (Netherlands); and others

The instability of the CGG repeat region of FMR1 is not restricted to the CGG repeat but expands to flanking sequences as well. A mosaic fragile X male is reported with a deletion of part of the CGG repeat and 30 bp immediately 3{prime} of the repeat, thus confirming the presence of a hotspot for deletions in the CGG region of FMR1. The deletion, detected in 28% of his lymphocytes, did not impair the transcription and translation of FMR1, suggesting that regulatory elements are not present in the deleted region. The patient has the characteristic fragile X phenotype and assuming that the mosaic pattern detected in the lymphocytes reflects the mosaic pattern in brain, 28% expression of FMRP may not be sufficient for normal cognitive functioning. 43 refs., 3 figs.

• OSTI ID: 478886
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DNA SEQUENCING
GENE MUTATIONS
GENE REGULATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MENTAL DISORDERS
METHYLATION
MOSAICISM
MUTATIONS
NUCLEOTIDES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
PROTEINS
TRANSCRIPTION