De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz; John R. Østergaard; Leena M. Ala-Kokko; Nadia Khan; Dorothy K. Grange; Roberto Mendoza-Londono; Timothy J. Bradley; Ann Haskins Olney; Lesley Adès; Joseph F. Maher; Dongchuan Guo; L. Maximilian Buja; Dong Kim; James C. Hyland; Ellen S. Regalado

doi:10.1002/ajmg.a.33657

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena M. Ala-Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza-Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley Adès, Joseph F. Maher, Dongchuan Guo, L. Maximilian Buja, Dong Kim, James C. Hyland, Ellen S. Regalado

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

216 Scopus citations

Abstract

Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.

Original language	English
Pages (from-to)	2437-2443
Number of pages	7
Journal	American Journal of Medical Genetics, Part A
Volume	152 A
Issue number	10
DOIs	https://doi.org/10.1002/ajmg.a.33657
State	Published - Oct 2010

Keywords

ACTA2
Alpha-actin
Congenital mydriasis
Moyamoya disease
Smooth muscle cell
Thoracic aortic aneurysm

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Milewicz, D. M., Østergaard, J. R., Ala-Kokko, L. M., Khan, N., Grange, D. K., Mendoza-Londono, R., Bradley, T. J., Olney, A. H., Adès, L., Maher, J. F., Guo, D., Buja, L. M., Kim, D., Hyland, J. C., & Regalado, E. S. (2010). De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. American Journal of Medical Genetics, Part A, 152 A(10), 2437-2443. https://doi.org/10.1002/ajmg.a.33657

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title = "De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction",

abstract = "Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.",

keywords = "ACTA2, Alpha-actin, Congenital mydriasis, Moyamoya disease, Smooth muscle cell, Thoracic aortic aneurysm",

author = "Milewicz, {Dianna M.} and {\O}stergaard, {John R.} and Ala-Kokko, {Leena M.} and Nadia Khan and Grange, {Dorothy K.} and Roberto Mendoza-Londono and Bradley, {Timothy J.} and Olney, {Ann Haskins} and Lesley Ad{\`e}s and Maher, {Joseph F.} and Dongchuan Guo and Buja, {L. Maximilian} and Dong Kim and Hyland, {James C.} and Regalado, {Ellen S.}",

year = "2010",

month = oct,

doi = "10.1002/ajmg.a.33657",

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pages = "2437--2443",

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Milewicz, DM, Østergaard, JR, Ala-Kokko, LM, Khan, N, Grange, DK, Mendoza-Londono, R, Bradley, TJ, Olney, AH, Adès, L, Maher, JF, Guo, D, Buja, LM, Kim, D, Hyland, JC & Regalado, ES 2010, 'De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction', American Journal of Medical Genetics, Part A, vol. 152 A, no. 10, pp. 2437-2443. https://doi.org/10.1002/ajmg.a.33657

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T1 - De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

AU - Milewicz, Dianna M.

AU - Østergaard, John R.

AU - Ala-Kokko, Leena M.

AU - Khan, Nadia

AU - Grange, Dorothy K.

AU - Mendoza-Londono, Roberto

AU - Bradley, Timothy J.

AU - Olney, Ann Haskins

AU - Adès, Lesley

AU - Maher, Joseph F.

AU - Guo, Dongchuan

AU - Buja, L. Maximilian

AU - Kim, Dong

AU - Hyland, James C.

AU - Regalado, Ellen S.

PY - 2010/10

Y1 - 2010/10

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AB - Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.

KW - ACTA2

KW - Alpha-actin

KW - Congenital mydriasis

KW - Moyamoya disease

KW - Smooth muscle cell

KW - Thoracic aortic aneurysm

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 10

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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

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