Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has rema...
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| Published in | PLoS genetics Vol. 10; no. 3; p. e1004258 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Public Library of Science
01.03.2014
Public Library of Science (PLoS) |
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| Abstract | Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. |
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| AbstractList | Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease. In 1976, a radiologist, Walter Berdon described a group of patients with a rare intestinal and bladder disorder in which the smooth muscle of those organs failed to contract. These patients are unable to digest food, require multiple abdominal surgeries and are diagnosed with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Since the description of MMIHS, the genes that cause it have remained a mystery. We followed and obtained DNA from patients with this disorder over a period of over 14 years and assembled a large group of cases. We used whole-exome sequencing, a powerful tool used to identify disease genes, and found mutations in ACTG2 , a visceral actin gene. Actins are components of muscle contractile units, and one Finnish family has been previously found with less severe gastrointestinal problems due to mutations in this gene. In our patients, we find de novo mutations in the majority of cases of MMIHS. However, we also find families with the disease over several generations due to these same mutations. This work provides the first disease gene for MMIHS, and suggests new treatment options. |
| Audience | Academic |
| Author | Eglite, Ieva Werlin, Steven Larson, Austin Gibbs, Richard A. Moss, Timothy Bacino, Carlos A. Beuten, Joke Muzny, Donna M. Yang, Yaping Probst, Frank J. Lehman, Efrat Lev Beaudet, Arthur Jhangiani, Shalini Xia, Fan Baldridge, Dustin Gonzaga-Jauregui, Claudia Penney, Samantha Chopra, Atul Lupski, James R. Wangler, Michael F. Neul, Jeff Kornejeva, Liene Gambin, Tomasz |
| AuthorAffiliation | 7 Department of Genetics, Children's Hospital Colorado, Aurora, Colorado 4 Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America 5 Children's Clinical University Hospital, Riga, Latvia Stanford University School of Medicine, United States of America 6 Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America 2 Texas Children's Hospital, Houston, Texas, United States of America 8 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America 3 Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland |
| AuthorAffiliation_xml | – name: 7 Department of Genetics, Children's Hospital Colorado, Aurora, Colorado – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America – name: 2 Texas Children's Hospital, Houston, Texas, United States of America – name: 6 Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America – name: Stanford University School of Medicine, United States of America – name: 3 Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland – name: 4 Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America – name: 5 Children's Clinical University Hospital, Riga, Latvia – name: 8 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States of America |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24676022$$D View this record in MEDLINE/PubMed |
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| ContentType | Journal Article |
| Copyright | COPYRIGHT 2014 Public Library of Science 2014 Wangler et al 2014 Wangler et al 2014 Wangler et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, et al. (2014) Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. PLoS Genet 10(3): e1004258. doi:10.1371/journal.pgen.1004258 |
| Copyright_xml | – notice: COPYRIGHT 2014 Public Library of Science – notice: 2014 Wangler et al 2014 Wangler et al – notice: 2014 Wangler et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, et al. (2014) Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. PLoS Genet 10(3): e1004258. doi:10.1371/journal.pgen.1004258 |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Conceived and designed the experiments: AB MFW DB TM ELL RAG JRL. Performed the experiments: CGJ MFW TM FX YY SJ DMM. Analyzed the data: MFW CGJ TG FX YY JB. Contributed reagents/materials/analysis tools: AC FJP SW IE LK CAB DB JN AL SP. Wrote the paper: MFW CGJ TG RAG JRL AB. The authors have read the journal's policy and have the following conflicts: The Department of Molecular and Human Genetics at Baylor College of Medicine (BCM) offers extensive genetic laboratory testing, and BCM derives revenue from this activity. The Department offers chromosomal microarray analysis, whole-exome sequencing, and many other tests. |
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| Snippet | Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder.... Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder.... |
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| SubjectTerms | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Actins - genetics Adolescent Adult Biology and Life Sciences Child Child, Preschool Colon - abnormalities Colon - pathology Epigenetic inheritance Exome Female Gene mutations Genes Genetic aspects Genetic disorders Genetic research Genomics Health aspects Heterozygote Humans Intestinal Pseudo-Obstruction - genetics Intestinal Pseudo-Obstruction - pathology Male Medicine and Health Sciences Muscle, Smooth - metabolism Mutation Mutation - genetics Parenteral nutrition Physiological aspects Smooth muscle Studies Urinary Bladder - abnormalities Urinary Bladder - pathology |
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| Title | Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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