Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency

Salimy, Zeinab; Akbari, Mohammad Taghi; Deilamani, Faravareh Khordadpoor

doi:10.1007/s12041-019-1171-5

Cited by 2 publications

(1 citation statement)

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“…In a more recent screening study of 674 cases from Iran using traditional and triple repeat primed PCR methods, 1.1% and 9.7% of ID males had a PM or FM allele, respectively, while 0.66% were mosaics for PM and FM alleles. Furthermore, 1.9% and 5.8% of ID females were GZ and PM carriers, respectively 12 . It is hypothesized that the founding group over‐represents relatively unstable alleles in the intermediate or premutation range that manifests over the passage of time in the progenies 13 …”

Section: Discussionmentioning

confidence: 99%

FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India

et al. 2021

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Fragile X syndrome is the most common genetic cause of intellectual disability (ID) and is also well known to have a role in primary ovarian insufficiency (POI) and fragile X‐associated tremor ataxia syndrome (FXTAS) that expresses across generations. The objective was to compare the CGG repeat variants in FMR1 gene among three correlating cohorts of ID, autism and idiopathic POI. Thirty‐six patients with ID, 12 with autism spectrum disorder (ASD) and 13 females with idiopathic POI were screened for FMR1 CGG repeat size by fluorescent methylation‐specific PCR and GeneScan analysis, irrespective of Hagerman checklist clinical scores. Among 29 males and seven females, 11 FMR1 allelic variants ranging from 21 to >200 CGG repeats were observed. Three (CF2‐3, 39‐5, 44‐2) out of 29 males had full mutation alleles accounting for a 10.34% incidence of FXS among idiopathic ID males. One of them was a mosaic for CGG repeats with both premutation and full mutation alleles. The frequency of fragile X syndrome is high among patients with idiopathic ID; they also had a high score for the clinical check list. A cascade testing that begins with checklist evaluation prior to DNA analysis will be cost‐effective for establishing early diagnosis in South India. With the huge disease burden, there is a need for the establishment of more molecular diagnostics and self‐help groups for fragile X syndrome.

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Section: Discussionmentioning

confidence: 99%