A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22

George J. Feldman; Deeann E. Ward; Elisabeth Lajeunie-Renier; Dolores Saavedra; Nathaniel H. Robin; Virginia Proud; Laura J. Robb; Vazken Der Kaloustian; John C. Carey; M. Michael Cohen; Valerie Cormier; Arnold Munnich; Elaine H. Zackai; Andrew O.M. Wilkie; R. Arlen Price; Maximilian Muenke

doi:10.1093/hmg/6.11.1937

A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22

George J. Feldman, Deeann E. Ward, Elisabeth Lajeunie-Renier, Dolores Saavedra, Nathaniel H. Robin, Virginia Proud, Laura J. Robb, Vazken Der Kaloustian, John C. Carey, M. Michael Cohen, Valerie Cormier, Arnold Munnich, Elaine H. Zackai, Andrew O.M. Wilkie, R. Arlen Price, Maximilian Muenke

Medicine

Résultat de recherche: Article › examen par les pairs

35 Citations (Scopus)

Résumé

Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none of their sons are affected. Here we report data confirming that CFNS is X-linked, mapping to a 13 cM interval in Xp22 with a maximum two-point lod score of 3.9 (θ = 0) at DXS8022 and a multipoint lod score of 5.08 at DXS1224. Detailed phenotypic analysis shows that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance.

Langue d'origine	English
Pages (de-à)	1937-1941
Nombre de pages	5
Journal	Human Molecular Genetics
Volume	6
Numéro de publication	11
DOI	https://doi.org/10.1093/hmg/6.11.1937
Statut de publication	Published - oct. 1997

Note bibliographique

Funding Information:
We are grateful to all family members for their participation and help in the study. We thank Dr Laura Cornejo for her help. A.O.M.W. is supported by the Wellcome Trust. This work was supported in part by NIH training grant 5T32HD07107 (to N.H.R.), by NIH grants RO1DK44073 and RO1DK48095 (to R.A.P.), R29HD28732 and RO1HD29862 (to M.M.) and by the Children’s Hospital of Philadelphia Development Fund (to M.M.).

ASJC Scopus Subject Areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/6.11.1937

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Feldman, G. J., Ward, D. E., Lajeunie-Renier, E., Saavedra, D., Robin, N. H., Proud, V., Robb, L. J., Der Kaloustian, V., Carey, J. C., Cohen, M. M., Cormier, V., Munnich, A., Zackai, E. H., Wilkie, A. O. M., Price, R. A., & Muenke, M. (1997). A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22. Human Molecular Genetics, 6(11), 1937-1941. https://doi.org/10.1093/hmg/6.11.1937

Feldman, GJ, Ward, DE, Lajeunie-Renier, E, Saavedra, D, Robin, NH, Proud, V, Robb, LJ, Der Kaloustian, V, Carey, JC, Cohen, MM, Cormier, V, Munnich, A, Zackai, EH, Wilkie, AOM, Price, RA & Muenke, M 1997, 'A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22', Human Molecular Genetics, vol. 6, n° 11, pp. 1937-1941. https://doi.org/10.1093/hmg/6.11.1937

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abstract = "Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none of their sons are affected. Here we report data confirming that CFNS is X-linked, mapping to a 13 cM interval in Xp22 with a maximum two-point lod score of 3.9 (θ = 0) at DXS8022 and a multipoint lod score of 5.08 at DXS1224. Detailed phenotypic analysis shows that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance.",

author = "Feldman, {George J.} and Ward, {Deeann E.} and Elisabeth Lajeunie-Renier and Dolores Saavedra and Robin, {Nathaniel H.} and Virginia Proud and Robb, {Laura J.} and {Der Kaloustian}, Vazken and Carey, {John C.} and Cohen, {M. Michael} and Valerie Cormier and Arnold Munnich and Zackai, {Elaine H.} and Wilkie, {Andrew O.M.} and Price, {R. Arlen} and Maximilian Muenke",

note = "Funding Information: We are grateful to all family members for their participation and help in the study. We thank Dr Laura Cornejo for her help. A.O.M.W. is supported by the Wellcome Trust. This work was supported in part by NIH training grant 5T32HD07107 (to N.H.R.), by NIH grants RO1DK44073 and RO1DK48095 (to R.A.P.), R29HD28732 and RO1HD29862 (to M.M.) and by the Children{\textquoteright}s Hospital of Philadelphia Development Fund (to M.M.).",

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AU - Proud, Virginia

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N2 - Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none of their sons are affected. Here we report data confirming that CFNS is X-linked, mapping to a 13 cM interval in Xp22 with a maximum two-point lod score of 3.9 (θ = 0) at DXS8022 and a multipoint lod score of 5.08 at DXS1224. Detailed phenotypic analysis shows that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance.

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A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22

Résumé

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ASJC Scopus Subject Areas

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