Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

Jill Urquhart, Rebecca Roberts, Deepthi de Silva, Stavit Shalev, Elena Chervinsky, Sheela Nampoothiri, Yves Sznajer, Nicole Revencu, Romesh Gunasekera, Mohnish Suri, Jamie Ellingford, Simon Williams, Sanjeev Bhaskar, Jill Clayton-Smith

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1216-1224
Number of pages9
JournalAmerican Journal of Medical Genetics. Part A
Issue number5
Early online date20 Jan 2016
Publication statusPublished - 14 Apr 2016


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