PMID- 27350105
OWN - NLM
STAT- MEDLINE
DCOM- 20170316
LR  - 20191128
IS  - 1469-5073 (Electronic)
IS  - 0016-6723 (Print)
IS  - 0016-6723 (Linking)
VI  - 98
DP  - 2016 Jun 28
TI  - FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 
      years of experience in Chile.
PG  - e11
LID - 10.1017/S0016672316000082 [doi]
LID - e11
AB  - Fragile X syndrome (FXS) is the most common form of inherited intellectual 
      disability (ID) and co-morbid autism. It is caused by an amplification of the CGG 
      repeat (>200), which is known as the full mutation, within the 5'UTR of the FMR1 
      gene. Expansions between 55-200 CGG repeats are termed premutation and are 
      associated with a greater risk for fragile X-associated tremor/ataxia syndrome 
      and fragile X-associated premature ovarian insufficiency. Intermediate alleles, 
      also called the grey zone, include approximately 45-54 repeats and are considered 
      borderline. Individuals with less than 45 repeats have a normal FMR1 gene. We 
      report the occurrence of CGG expansions of the FMR1 gene in Chile among patients 
      with ID and families with a known history of FXS. Here, we present a 
      retrospective review conducted on 2321 cases (2202 probands and 119 relatives) 
      referred for FXS diagnosis and cascade screening at the Institute of Nutrition 
      and Food Technology (INTA), University of Chile. Samples were analysed using 
      traditional cytogenetic methods and/or PCR. Southern blot was used to confirm the 
      diagnosis. Overall frequency of FMR1 expansions observed among probands was 194 
      (8.8%), the average age of diagnosis was 8.8 +/- 5.4 years. Of 119 family members 
      studied, 72 (60%) were diagnosed with a CGG expansion. Our results indicated that 
      the prevalence of CGG expansions of the FMR1 gene among probands is relatively 
      higher than other populations. The average age of diagnosis is also higher than 
      reference values. PCR and Southern blot represent a reliable molecular technique 
      in the diagnosis of FXS.
FAU - Santa Maria, Lorena
AU  - Santa Maria L
AD  - Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology 
      (INTA),University of Chile,Santiago,Chile.
FAU - Aliaga, Solange
AU  - Aliaga S
AD  - Center for Diagnosis and Treatment of Fragile X Syndrome Patients 
      (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of 
      Chile,Santiago,Chile.
FAU - Faundes, Victor
AU  - Faundes V
AD  - Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology 
      (INTA),University of Chile,Santiago,Chile.
FAU - Morales, Paulina
AU  - Morales P
AD  - Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology 
      (INTA),University of Chile,Santiago,Chile.
FAU - Pugin, Angela
AU  - Pugin A
AD  - Center for Diagnosis and Treatment of Fragile X Syndrome Patients 
      (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of 
      Chile,Santiago,Chile.
FAU - Curotto, Bianca
AU  - Curotto B
AD  - Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology 
      (INTA),University of Chile,Santiago,Chile.
FAU - Soto, Paula
AU  - Soto P
AD  - Center for Diagnosis and Treatment of Fragile X Syndrome Patients 
      (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of 
      Chile,Santiago,Chile.
FAU - Pena, M Ignacia
AU  - Pena MI
AD  - Center for Diagnosis and Treatment of Fragile X Syndrome Patients 
      (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of 
      Chile,Santiago,Chile.
FAU - Salas, Isabel
AU  - Salas I
AD  - Center for Diagnosis and Treatment of Fragile X Syndrome Patients 
      (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of 
      Chile,Santiago,Chile.
FAU - Alliende, M Angelica
AU  - Alliende MA
AD  - Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology 
      (INTA),University of Chile,Santiago,Chile.
LA  - eng
PT  - Journal Article
DEP - 20160628
PL  - England
TA  - Genet Res (Camb)
JT  - Genetics research
JID - 101550220
RN  - 0 (FMR1 protein, human)
RN  - 139135-51-6 (Fragile X Mental Retardation Protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Blotting, Southern
MH  - Child
MH  - Child, Preschool
MH  - Family
MH  - Female
MH  - Fragile X Mental Retardation Protein/*genetics
MH  - Fragile X Syndrome/*genetics
MH  - *Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Genotype
MH  - Humans
MH  - Infant
MH  - Male
MH  - Mutation/*genetics
MH  - Polymerase Chain Reaction
MH  - Repetitive Sequences, Nucleic Acid/*genetics
MH  - Retrospective Studies
MH  - Young Adult
PMC - PMC6865162
EDAT- 2016/06/29 06:00
MHDA- 2017/03/17 06:00
PMCR- 2016/06/28
CRDT- 2016/06/29 06:00
PHST- 2016/06/29 06:00 [entrez]
PHST- 2016/06/29 06:00 [pubmed]
PHST- 2017/03/17 06:00 [medline]
PHST- 2016/06/28 00:00 [pmc-release]
AID - S0016672316000082 [pii]
AID - 00008 [pii]
AID - 10.1017/S0016672316000082 [doi]
PST - epublish
SO  - Genet Res (Camb). 2016 Jun 28;98:e11. doi: 10.1017/S0016672316000082.