The fragile X syndrome: No evidence for any recent mutations

A. P T Smits; J. C F M Dreesen; J. G. Post; D. F C M Smeets; C. De Die-Smulders; T. Spaans-Van Der Bijl; L. C P Govaerts; S. T. Warren; B. A. Oostra; B. A. Van Oost

The fragile X syndrome: No evidence for any recent mutations

A. P T Smits, J. C F M Dreesen, J. G. Post, D. F C M Smeets, C. De Die-Smulders, T. Spaans-Van Der Bijl, L. C P Govaerts, S. T. Warren, B. A. Oostra, B. A. Van Oost^*

^*Corresponding author for this work

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

36 Citations (Scopus)

Abstract

Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation for 84 probands referred to us to date. We show here the same fra(X) gene in five fra(X) probands with common ancestors married in 1747. The lack of new fra(X) mutations implies that there must be many more fra(X) gene carriers in the population than previously realised. As it is now possible to detect asymptomatic fra(X) gene carriers by DNA analysis, extended family studies for any new proband are recommended. A family illustrating the importance of fra(X) carriership determination is reported.

Original language	English
Pages (from-to)	94-96
Number of pages	3
Journal	Journal of Medical Genetics
Volume	30
Issue number	2
Publication status	Published - 1 Dec 1993

Cite this

@article{b3869eb28db44203afd97cddc211b035,

title = "The fragile X syndrome: No evidence for any recent mutations",

abstract = "Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation for 84 probands referred to us to date. We show here the same fra(X) gene in five fra(X) probands with common ancestors married in 1747. The lack of new fra(X) mutations implies that there must be many more fra(X) gene carriers in the population than previously realised. As it is now possible to detect asymptomatic fra(X) gene carriers by DNA analysis, extended family studies for any new proband are recommended. A family illustrating the importance of fra(X) carriership determination is reported.",

author = "Smits, {A. P T} and Dreesen, {J. C F M} and Post, {J. G.} and Smeets, {D. F C M} and {De Die-Smulders}, C. and {Spaans-Van Der Bijl}, T. and Govaerts, {L. C P} and Warren, {S. T.} and Oostra, {B. A.} and {Van Oost}, {B. A.}",

year = "1993",

month = dec,

day = "1",

language = "English",

volume = "30",

pages = "94--96",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "2",

}

TY - JOUR

T1 - The fragile X syndrome

T2 - No evidence for any recent mutations

AU - Smits, A. P T

AU - Dreesen, J. C F M

AU - Post, J. G.

AU - Smeets, D. F C M

AU - De Die-Smulders, C.

AU - Spaans-Van Der Bijl, T.

AU - Govaerts, L. C P

AU - Warren, S. T.

AU - Oostra, B. A.

AU - Van Oost, B. A.

PY - 1993/12/1

Y1 - 1993/12/1

N2 - Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation for 84 probands referred to us to date. We show here the same fra(X) gene in five fra(X) probands with common ancestors married in 1747. The lack of new fra(X) mutations implies that there must be many more fra(X) gene carriers in the population than previously realised. As it is now possible to detect asymptomatic fra(X) gene carriers by DNA analysis, extended family studies for any new proband are recommended. A family illustrating the importance of fra(X) carriership determination is reported.

AB - Fragile X (fra(X)) syndrome, the most common form of familial mental retardation, is caused by heritable unstable DNA composed of CGG repeats. As reproductive fitness of fra(X) patients is severely compromised, a high mutation rate has been proposed to explain the high prevalence. However, we have been unable to show any new mutation for 84 probands referred to us to date. We show here the same fra(X) gene in five fra(X) probands with common ancestors married in 1747. The lack of new fra(X) mutations implies that there must be many more fra(X) gene carriers in the population than previously realised. As it is now possible to detect asymptomatic fra(X) gene carriers by DNA analysis, extended family studies for any new proband are recommended. A family illustrating the importance of fra(X) carriership determination is reported.

UR - http://www.scopus.com/inward/record.url?scp=0027411739&partnerID=8YFLogxK

M3 - Article

C2 - 8445628

AN - SCOPUS:0027411739

SN - 0022-2593

VL - 30

SP - 94

EP - 96

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

ER -

The fragile X syndrome: No evidence for any recent mutations

Abstract

Other files and links

Fingerprint

Cite this