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Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

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Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. / Irving, Melita D.; Dimitrov, Boyan I.; Wessels, Marja; Holder-Espinasse, Muriel; Chitayat, David; Simpson, Michael A.

In: American Journal of Medical Genetics. Part A, Vol. 170, No. 12, 01.12.2016, p. 3133-3137.

Research output: Contribution to journalArticle

Harvard

Irving, MD, Dimitrov, BI, Wessels, M, Holder-Espinasse, M, Chitayat, D & Simpson, MA 2016, 'Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene', American Journal of Medical Genetics. Part A, vol. 170, no. 12, pp. 3133-3137. https://doi.org/10.1002/ajmg.a.37946

APA

Irving, M. D., Dimitrov, B. I., Wessels, M., Holder-Espinasse, M., Chitayat, D., & Simpson, M. A. (2016). Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. American Journal of Medical Genetics. Part A, 170(12), 3133-3137. https://doi.org/10.1002/ajmg.a.37946

Vancouver

Irving MD, Dimitrov BI, Wessels M, Holder-Espinasse M, Chitayat D, Simpson MA. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. American Journal of Medical Genetics. Part A. 2016 Dec 1;170(12):3133-3137. https://doi.org/10.1002/ajmg.a.37946

Author

Irving, Melita D. ; Dimitrov, Boyan I. ; Wessels, Marja ; Holder-Espinasse, Muriel ; Chitayat, David ; Simpson, Michael A. / Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. In: American Journal of Medical Genetics. Part A. 2016 ; Vol. 170, No. 12. pp. 3133-3137.

Bibtex Download

@article{90cfad80139c4974a15d2ecf6beaaed0,
title = "Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene",
abstract = "Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, cleft palate, microtia, and abnormal pulmonary function. First reported in three siblings it was assumed to be an autosomal recessive condition. However, subsequent publication reported a further five simplex occurrences and a living patient with a heterozygous mutation in the SF3B4 gene. Exome sequencing was performed on four fetuses with this disorder, including one of the originally described affected siblings. We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. {\circledC} 2016 Wiley Periodicals, Inc.",
keywords = "exome sequencing, Nager syndrome, Rodriguez acrofacial dysostosis, SF3B4",
author = "Irving, {Melita D.} and Dimitrov, {Boyan I.} and Marja Wessels and Muriel Holder-Espinasse and David Chitayat and Simpson, {Michael A.}",
year = "2016",
month = "12",
day = "1",
doi = "10.1002/ajmg.a.37946",
language = "English",
volume = "170",
pages = "3133--3137",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

AU - Irving, Melita D.

AU - Dimitrov, Boyan I.

AU - Wessels, Marja

AU - Holder-Espinasse, Muriel

AU - Chitayat, David

AU - Simpson, Michael A.

PY - 2016/12/1

Y1 - 2016/12/1

N2 - Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, cleft palate, microtia, and abnormal pulmonary function. First reported in three siblings it was assumed to be an autosomal recessive condition. However, subsequent publication reported a further five simplex occurrences and a living patient with a heterozygous mutation in the SF3B4 gene. Exome sequencing was performed on four fetuses with this disorder, including one of the originally described affected siblings. We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. © 2016 Wiley Periodicals, Inc.

AB - Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, cleft palate, microtia, and abnormal pulmonary function. First reported in three siblings it was assumed to be an autosomal recessive condition. However, subsequent publication reported a further five simplex occurrences and a living patient with a heterozygous mutation in the SF3B4 gene. Exome sequencing was performed on four fetuses with this disorder, including one of the originally described affected siblings. We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. © 2016 Wiley Periodicals, Inc.

KW - exome sequencing

KW - Nager syndrome

KW - Rodriguez acrofacial dysostosis

KW - SF3B4

UR - http://www.scopus.com/inward/record.url?scp=84994235471&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37946

DO - 10.1002/ajmg.a.37946

M3 - Article

VL - 170

SP - 3133

EP - 3137

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 12

ER -

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