title: Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome.
abstract: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM%249210) is a rare and severe form of congenital intestinal and urinary dysfunction and malformation. Histologic studies suggest that the predominant intestinal manifestation is smooth muscle myopathy. Molecular observations have linked the disease to the neuronal nicotinic acetylcholine receptor (ηAChR), namely the absence of a functional α3 subunit of the ηAChR in patients with MMIHS. We describe a case of MMIHS in association with a de novo deletion of the proximal long arm of chromosome 15 (15q11.2). Histologic evaluation revealed an appropriate light microscopic appearance of both the circular and longitudinal layers of the small bowel muscularis propria. Immunohistochemical staining for smooth muscle actin, however, was selectively absent in the circular layer, demonstrating isolated absence in a unique and previously undescribed pattern. These observations raise the possibility that the proximal long arm of chromosome 15 (15q11) may be of clinical significance in MMIHS.
authors.affiliation: Department of Pathology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Reka
authors.initials: R
authors.lastname: Szigeti
authors.forename: Bruno P
authors.initials: BP
authors.lastname: Chumpitazi
authors.forename: Milton J
authors.initials: MJ
authors.lastname: Finegold
authors.forename: Sarangarajan
authors.initials: S
authors.lastname: Ranganathan
authors.forename: William J
authors.initials: WJ
authors.lastname: Craigen
authors.forename: Beth A
authors.initials: BA
authors.lastname: Carter
authors.forename: Nina
authors.initials: N
authors.lastname: Tatevian
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology* / Q000601:surgery; D000199:Actins / Q000378:metabolism*; D015415:Biomarkers / Q000378:metabolism; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D003106:Colon / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007421:Intestine, Small / Q000378:metabolism*; D009130:Muscle, Smooth / Q000378:metabolism; D010528:Peristalsis; D013577:Syndrome; D001743:Urinary Bladder / Q000002:abnormalities* / Q000378:metabolism
chemical_list: C541116:ACTA2 protein, human; D000199:Actins; D015415:Biomarkers