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Syndrome, FRAXA

MedGen UID:
199597
•Concept ID:
C0751156
•
Disease or Syndrome
Synonyms: FRAXA Syndrome; FRAXA Syndromes; Syndromes, FRAXA

Professional guidelines

PubMed

Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots.
Dawson AJ, Chodirker BN, Chudley AE
Biochem Mol Med 1995 Oct;56(1):63-9. doi: 10.1006/bmme.1995.1057. PMID: 8593539

Recent clinical studies

Etiology

Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
Katikala L, Guruju MR, Madireddi S, Vallamkonda O, Vallamkonda N, Persha A, Spurgeon AM
Genet Test Mol Biomarkers 2011 Apr;15(4):281-4. Epub 2011 Jan 23 doi: 10.1089/gtmb.2010.0167. PMID: 21254876
Screening of rural children in West Bengal for fragile-X syndrome.
Dutta S, Das M, Bhowmik AD, Sinha S, Chattopadhyay A, Mukhopadhyay K
Indian J Med Res 2009 Dec;130(6):714-9. PMID: 20090132
Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.
Guruju MR, Lavanya K, Thelma BK, Sujatha M, OmSai VR, Nagarathna V, Amarjyothi P, Jyothi A, Anandaraj MP
J Clin Neurosci 2009 Oct;16(10):1305-10. Epub 2009 Jun 27 doi: 10.1016/j.jocn.2008.12.018. PMID: 19560928
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey.
Machado-Ferreira Mdo C, Costa-Lima MA, Boy RT, Esteves GS, Pimentel MM
Am J Med Genet A 2004 Apr 30;126A(3):237-40. doi: 10.1002/ajmg.a.20585. PMID: 15054835
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Van Buggenhout GJ, Trommelen JC, Brunner HG, Hamel BC, Fryns J
Ann Genet 2001 Jan-Mar;44(1):47-55. doi: 10.1016/s0003-3995(01)01038-3. PMID: 11334618

Diagnosis

Screening of rural children in West Bengal for fragile-X syndrome.
Dutta S, Das M, Bhowmik AD, Sinha S, Chattopadhyay A, Mukhopadhyay K
Indian J Med Res 2009 Dec;130(6):714-9. PMID: 20090132
Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.
Guruju MR, Lavanya K, Thelma BK, Sujatha M, OmSai VR, Nagarathna V, Amarjyothi P, Jyothi A, Anandaraj MP
J Clin Neurosci 2009 Oct;16(10):1305-10. Epub 2009 Jun 27 doi: 10.1016/j.jocn.2008.12.018. PMID: 19560928
Mutagenic roles of DNA "repair" proteins in antibody diversity and disease-associated trinucleotide repeat instability.
Slean MM, Panigrahi GB, Ranum LP, Pearson CE
DNA Repair (Amst) 2008 Jul 1;7(7):1135-54. Epub 2008 May 16 doi: 10.1016/j.dnarep.2008.03.014. PMID: 18485833
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Van Buggenhout GJ, Trommelen JC, Brunner HG, Hamel BC, Fryns J
Ann Genet 2001 Jan-Mar;44(1):47-55. doi: 10.1016/s0003-3995(01)01038-3. PMID: 11334618
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.
Knight SJ, Ritchie RJ, Chakrabarti L, Cross G, Taylor GR, Mueller RF, Hurst J, Paterson J, Yates JR, Dow DJ, Davies KE
Am J Hum Genet 1996 May;58(5):906-13. PMID: 8651274Free PMC Article

Prognosis

Non-invasive screening of fragile X syndrome A using urine and hair roots.
Suwa K, Momoi MY
Brain Dev 2004 Sep;26(6):380-3. doi: 10.1016/j.braindev.2003.11.002. PMID: 15275700

Clinical prediction guides

Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
Katikala L, Guruju MR, Madireddi S, Vallamkonda O, Vallamkonda N, Persha A, Spurgeon AM
Genet Test Mol Biomarkers 2011 Apr;15(4):281-4. Epub 2011 Jan 23 doi: 10.1089/gtmb.2010.0167. PMID: 21254876
Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.
Guruju MR, Lavanya K, Thelma BK, Sujatha M, OmSai VR, Nagarathna V, Amarjyothi P, Jyothi A, Anandaraj MP
J Clin Neurosci 2009 Oct;16(10):1305-10. Epub 2009 Jun 27 doi: 10.1016/j.jocn.2008.12.018. PMID: 19560928
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Van Buggenhout GJ, Trommelen JC, Brunner HG, Hamel BC, Fryns J
Ann Genet 2001 Jan-Mar;44(1):47-55. doi: 10.1016/s0003-3995(01)01038-3. PMID: 11334618
Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.
Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W
Nucleic Acids Res 2000 May 15;28(10):2141-52. doi: 10.1093/nar/28.10.2141. PMID: 10773084Free PMC Article
Genes with triplet repeats: a new class of mutations causing neurological diseases.
Plassart E, Fontaine B
Biomed Pharmacother 1994;48(5-6):191-7. doi: 10.1016/0753-3322(94)90133-3. PMID: 7999979

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