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10 Possible Causes for Mutation in the ACTG2 Gene

  • Intestinal Pseudo-Obstruction

    Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident.[journals.lww.com] What Is New Four out of 28 of our probands had an ACTG2 gene mutation, enabling a precise diagnosis.[journals.lww.com] Pooled gene sequencing results from 1 individual in each of 111 families enabled a precise diagnosis of an ACTG2 mutation in 49 (44%).[journals.lww.com]

  • Familial Visceral Myopathy

    Initial ileal biopsy suggested neuropathy; however, exome sequencing revealed an Arg148Ser mutation in the enteric smooth muscle actin gamma 2 (ACTG2) gene.[ncbi.nlm.nih.gov] Gene Mutation was Detected: A Case Report. ( 29608093 ) KorA9alA E.A.9....EA9ilmez H.R. 2018 7 Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon[malacards.org] […] in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 ) Whittington J.R..[malacards.org]

  • Chronic Intestinal Pseudo-Obstruction

    Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident.[ncbi.nlm.nih.gov] In some people with CIPO, the condition is caused by variations ( mutations ) affecting the FLNA or ACTG2 gene.[rarediseases.info.nih.gov] CONCLUSIONS: Pooled gene sequencing results from 1 individual in each of 111 families enabled a precise diagnosis of an ACTG2 mutation in 49 (44%).[ncbi.nlm.nih.gov]

  • Megacystis - Megaureter Syndrome

    However medical scientists believe that many cases of MMIHS are caused by de novo mutations in the ACTG2 gene (meaning the mutation in the gene happened by mistake during[rarediseases.info.nih.gov] It is part of a group of conditions caused by changes ( mutations ) in the ACTG2 gene and is inherited in an autosomal dominant manner.[rarediseases.info.nih.gov]

  • Ochoa Syndrome

    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.[e-sciencecentral.org]

  • Multisystemic Smooth Muscle Dysfunction Syndrome

    All 5 children has a de novo mutation in either ACTA2 or ACTG2 gene.[slideblast.com] Lupski and Arthur Beaudet, Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome[doi.org] PATEINTS DESCRIBED IN THE PRESENT REPORT Patient no ( p) P1 P2 P3 P4 P5 ACTA2 ACTA2 ACTG2 ACTG2 ACTG2 Mutation (protein) p.R179H p.R179H p.R178C p.R257C p.R257H Localization[slideblast.com]

  • Cerebro-Facio-Thoracic Dysplasia

    Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome.[bhcmg.org]

  • Megacystis - Microcolon - Intestinal Hypoperistalsis Syndrome

    This female newborn with MMIHS had a c.532C A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene.[ncbi.nlm.nih.gov] We interrogated our cohort of MMIHS patients for mutations in reported causal genes, ACTG2, MYH11, MYLK and LMOD1 and searched for novel causal variants in unidentified cases[spuonline.org] ACTG2 gene mutations lead to production of an altered γ-2 actin protein.[ghr.nlm.nih.gov]

  • X-Linked Chronic Intestinal Pseudoobstruction

    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.[ghr.nlm.nih.gov] ...Ito Y. 2017 36 Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. ( 28422808 ) Milunsky A....Milunsky J. 2017 37 Immune-related[malacards.org] ACTG2 gene mutations hinder the formation of actin filaments in the cytoskeleton and reduce the ability of smooth muscles in the intestines and bladder to contract, leading[ghr.nlm.nih.gov]

  • Moyamoya Disease with Early-Onset Achalasia

    Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.[bcm.edu]

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