Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Hagop Youssoufian; Haig H. Kazazian; Achyut Patel; Sophia Aronis; George Tsiftis; Leon W. Hoyer; Stylianos E. Antonarakis

doi:10.1016/0888-7543(88)90106-1

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Hagop Youssoufian, Haig H. Kazazian, Achyut Patel, Sophia Aronis, George Tsiftis, Leon W. Hoyer, Stylianos E. Antonarakis

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

11 Scopus citations

Abstract

Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized by variation in clinical severity and coagulation activity. This variation is thought to reflect heterogeneity of mutations in the factor VIII gene. Here we describe a CG-to-CA mutation within a potential cryptic donor splice site in intron 4 of the factor VIII gene from a patient with mild disease. This mutation makes the cryptic sequence resemble more closely the consensus sequence for donor splice sites. We infer that the mutation activates the cryptic donor splice site, which in turn causes a defect in RNA processing.

Original language	English (US)
Pages (from-to)	32-36
Number of pages	5
Journal	Genomics
Volume	2
Issue number	1
DOIs	https://doi.org/10.1016/0888-7543(88)90106-1
State	Published - Jan 1988
Externally published	Yes

ASJC Scopus subject areas

Genetics

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10.1016/0888-7543(88)90106-1

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@article{51996992f4664e0dafb498fa7a88a881,

title = "Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene",

abstract = "Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized by variation in clinical severity and coagulation activity. This variation is thought to reflect heterogeneity of mutations in the factor VIII gene. Here we describe a CG-to-CA mutation within a potential cryptic donor splice site in intron 4 of the factor VIII gene from a patient with mild disease. This mutation makes the cryptic sequence resemble more closely the consensus sequence for donor splice sites. We infer that the mutation activates the cryptic donor splice site, which in turn causes a defect in RNA processing.",

author = "Hagop Youssoufian and Kazazian, {Haig H.} and Achyut Patel and Sophia Aronis and George Tsiftis and Hoyer, {Leon W.} and Antonarakis, {Stylianos E.}",

note = "Funding Information: We are grateful to Drs. K. Davies, R. Lawn, J. L. Mandel, J. Toole, and J. Wozney for their generous gifts of probes. We also thank Dr. R. Lawn for communication of unpublished information, Ms. E. Pasterfield for preparation of the manuscript and Ms. J. Strayer for the artwork. This study was supported by NIH grants to H.H.K. and S.E.A.",

year = "1988",

month = jan,

doi = "10.1016/0888-7543(88)90106-1",

language = "English (US)",

volume = "2",

pages = "32--36",

journal = "Genomics",

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publisher = "Academic Press Inc.",

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TY - JOUR

T1 - Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

AU - Youssoufian, Hagop

AU - Kazazian, Haig H.

AU - Patel, Achyut

AU - Aronis, Sophia

AU - Tsiftis, George

AU - Hoyer, Leon W.

AU - Antonarakis, Stylianos E.

N1 - Funding Information: We are grateful to Drs. K. Davies, R. Lawn, J. L. Mandel, J. Toole, and J. Wozney for their generous gifts of probes. We also thank Dr. R. Lawn for communication of unpublished information, Ms. E. Pasterfield for preparation of the manuscript and Ms. J. Strayer for the artwork. This study was supported by NIH grants to H.H.K. and S.E.A.

PY - 1988/1

Y1 - 1988/1

N2 - Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized by variation in clinical severity and coagulation activity. This variation is thought to reflect heterogeneity of mutations in the factor VIII gene. Here we describe a CG-to-CA mutation within a potential cryptic donor splice site in intron 4 of the factor VIII gene from a patient with mild disease. This mutation makes the cryptic sequence resemble more closely the consensus sequence for donor splice sites. We infer that the mutation activates the cryptic donor splice site, which in turn causes a defect in RNA processing.

AB - Hemophilia A, an X-linked disease caused by deficiency of factor VIII, is characterized by variation in clinical severity and coagulation activity. This variation is thought to reflect heterogeneity of mutations in the factor VIII gene. Here we describe a CG-to-CA mutation within a potential cryptic donor splice site in intron 4 of the factor VIII gene from a patient with mild disease. This mutation makes the cryptic sequence resemble more closely the consensus sequence for donor splice sites. We infer that the mutation activates the cryptic donor splice site, which in turn causes a defect in RNA processing.

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JO - Genomics

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Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

Abstract

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