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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.
Pediatr Dev Pathol. 2010 Jul-Aug; 13(4):322-5.PD

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+Show Affiliations

Department of Pathology, Baylor College of Medicine, Houston, TX, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20028211

Citation

Szigeti, Reka, et al. "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." Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, vol. 13, no. 4, 2010, pp. 322-5.
Szigeti R, Chumpitazi BP, Finegold MJ, et al. 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. Pediatr Dev Pathol. 2010;13(4):322-5.
Szigeti, R., Chumpitazi, B. P., Finegold, M. J., Ranganathan, S., Craigen, W. J., Carter, B. A., & Tatevian, N. (2010). 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. Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 13(4), 322-5. https://doi.org/10.2350/09-07-0678-CR.1
Szigeti R, et al. 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. Pediatr Dev Pathol. 2010 Jul-Aug;13(4):322-5. PubMed PMID: 20028211.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Szigeti,Reka, AU - Chumpitazi,Bruno P, AU - Finegold,Milton J, AU - Ranganathan,Sarangarajan, AU - Craigen,William J, AU - Carter,Beth A, AU - Tatevian,Nina, PY - 2009/12/24/entrez PY - 2009/12/24/pubmed PY - 2010/12/14/medline SP - 322 EP - 5 JF - Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society JO - Pediatr Dev Pathol VL - 13 IS - 4 N2 - 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. SN - 1093-5266 UR - https://www.unboundmedicine.com/medline/citation/20028211/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_ L2 - https://journals.sagepub.com/doi/10.2350/09-07-0678-CR.1?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -