Fragile X syndrome in mentally retarded patients from Latvia

Z. Daneberga; Z. Krumina; B. Lace; D. Bauze; N. Pronina; R. Lugovska

doi:10.2418/v10046-009-0021-x

Fragile X syndrome in mentally retarded patients from Latvia

Z. Daneberga (Corresponding Author), Z. Krumina, B. Lace, D. Bauze, N. Pronina, R. Lugovska

Rīga Stradiņš University

Research output: Contribution to journal › Article › peer-review

Abstract

The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG in- terspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.

Original language	English
Pages (from-to)	70-72
Number of pages	3
Journal	Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
Volume	63
Issue number	1-2
DOIs	https://doi.org/10.2418/v10046-009-0021-x
Publication status	Published - 2009

Keywords*

FMR1
Fragile X
FRAXA
Mental retardation

Field of Science*

3.1 Basic medicine
3.2 Clinical medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.2418/v10046-009-0021-xLicence: CC BY-NC-ND

Cite this

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title = "Fragile X syndrome in mentally retarded patients from Latvia",

abstract = "The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG in- terspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.",

keywords = "FMR1, Fragile X, FRAXA, Mental retardation",

author = "Z. Daneberga and Z. Krumina and B. Lace and D. Bauze and N. Pronina and R. Lugovska",

note = "Funding Information: The study was approved by Latvian Central Committee of Medical Ethics and supported by ESF project Nr. 2004/0005/VPD1/ESF/PIAA/04/NP/3.2.3.1./0001/0004 /0066.",

year = "2009",

doi = "10.2418/v10046-009-0021-x",

language = "English",

volume = "63",

pages = "70--72",

journal = "Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences",

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T1 - Fragile X syndrome in mentally retarded patients from Latvia

AU - Daneberga, Z.

AU - Krumina, Z.

AU - Lace, B.

AU - Bauze, D.

AU - Pronina, N.

AU - Lugovska, R.

N1 - Funding Information: The study was approved by Latvian Central Committee of Medical Ethics and supported by ESF project Nr. 2004/0005/VPD1/ESF/PIAA/04/NP/3.2.3.1./0001/0004 /0066.

PY - 2009

Y1 - 2009

N2 - The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG in- terspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.

AB - The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG in- terspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.

KW - FMR1

KW - Fragile X

KW - FRAXA

KW - Mental retardation

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U2 - 10.2418/v10046-009-0021-x

DO - 10.2418/v10046-009-0021-x

M3 - Article

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SN - 1407-009X

VL - 63

SP - 70

EP - 72

JO - Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences

JF - Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences

IS - 1-2

ER -

Fragile X syndrome in mentally retarded patients from Latvia

Abstract

Keywords*

Field of Science*

Publication Type*

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