Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : Am J Med Genet A
Source : Am J Med Genet A, Volume 170A, Issue 5, p.1216-24 (2016)
Url : http://www.ncbi.nlm.nih.gov/pubmed/26789649
Keywords : adolescent, child, Child, Preschool, cleft lip, cleft palate, Collectins, Eye Abnormalities, face, female, Humans, hypertelorism, infant, male, Mannose-Binding Protein-Associated Serine Proteases, Mutation, sequence analysis, Urogenital Abnormalities
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2016
Abstract : The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary tract anomalies. Ophthalmological abnormalities, most notably anterior chamber defects may also be seen. We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported families. The exclusion of the MASP1 and COLEC11 Loci in two individuals from different consanguineous families and the absence of mutations in four further individuals sequenced for both genes raises the possibility that that there is further genetic heterogeneity of 3MC syndrome.
Cite this Research Publication : J. Urquhart, Roberts, R., de Silva, D., Shalev, S., Chervinsky, E., Nampoothiri, S., Sznajer, Y., Revencu, N., Gunasekera, R., Suri, M., Ellingford, J., Williams, S., Bhaskar, S., and Clayton-Smith, J., “Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.”, Am J Med Genet A, vol. 170A, no. 5, pp. 1216-24, 2016.