TY - JOUR
T1 - Robust Screening and Cascade Testing for Fragile X Expansions in a Large Multigenerational Family Identify Many Affected Individuals
T2 - An Experience in the Remote Area of Indonesia
AU - Utari, Agustini
AU - Basuta, Kirin
AU - Winarni, Tri Indah
AU - Lo, Joyce
AU - Morales, Guadalupe Mendoza
AU - Faradz, Sultana M.H.
AU - Tassone, Flora
N1 - Funding Information:
This work was supported by the National Institute of Health Grants HD02274, 3P30-HD02274-35S1, HD036071. We thank all of the schools and families who participate in this study. Thank you for CEBIOR staff and Kristin, Wrin, Lita, Mita, Tari, Ivan, Titut for helping the sampling process. This work is dedicated to the memory of Matteo.
PY - 2020
Y1 - 2020
N2 - Fragile X Syndrome (FXS) is the most common known inherited form of intellectual disability (ID), caused by a CGG repeat expansion of the FMR1 gene. The aimed of the study was to screen FMR1 mutation among the ID population followed by cascade testing in a remote area. A PCR-based method was used to screen FMR1 expanded alleles using dried blood spot cards in Flores Island, one of the very remote areas in East Indonesia. The screening included 130 males and 81 females from three schools of children with ID. The screening identified three individuals with expanded alleles including two full mutation males and one premutation male. No expanded allele was detected in females. A second blood sample for confirmatory diagnosis was done using Southern blot. Cascade testing in a remote area of Indonesia found a multigenerational family with a large number of cases with FXS. FXS screening of ID populations followed by cascade testing in positive FXS family in a remote area with challenging accessibility is recommended.
AB - Fragile X Syndrome (FXS) is the most common known inherited form of intellectual disability (ID), caused by a CGG repeat expansion of the FMR1 gene. The aimed of the study was to screen FMR1 mutation among the ID population followed by cascade testing in a remote area. A PCR-based method was used to screen FMR1 expanded alleles using dried blood spot cards in Flores Island, one of the very remote areas in East Indonesia. The screening included 130 males and 81 females from three schools of children with ID. The screening identified three individuals with expanded alleles including two full mutation males and one premutation male. No expanded allele was detected in females. A second blood sample for confirmatory diagnosis was done using Southern blot. Cascade testing in a remote area of Indonesia found a multigenerational family with a large number of cases with FXS. FXS screening of ID populations followed by cascade testing in positive FXS family in a remote area with challenging accessibility is recommended.
KW - Dried blood spot testing
KW - fragile X syndrome
KW - screening
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U2 - 10.6000/2292-2598.2020.08.01.2
DO - 10.6000/2292-2598.2020.08.01.2
M3 - Article
AN - SCOPUS:85099495025
VL - 8
SP - 9
EP - 15
JO - Journal of Intellectual Disability - Diagnosis and Treatment
JF - Journal of Intellectual Disability - Diagnosis and Treatment
SN - 2292-2598
IS - 1
ER -