1. Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
- Author
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Nicole Revencu, Jill E. Urquhart, Deepthi De Silva, Sheela Nampoothiri, Sanjeev S. Bhaskar, Simon G. Williams, Jill Clayton-Smith, Elena Chervinsky, Mohnish Suri, Rebecca Roberts, Stavit A. Shalev, Yves Sznajer, Romesh Gunasekera, and Jamie M Ellingford
- Subjects
0301 basic medicine ,Genetics ,Mutation ,Genetic heterogeneity ,3MC syndrome ,business.industry ,Genitourinary Tract Anomalies ,030105 genetics & heredity ,medicine.disease_cause ,medicine.disease ,03 medical and health sciences ,Postnatal growth deficiency ,030104 developmental biology ,medicine ,Tail ,Hypertelorism ,medicine.symptom ,business ,Genetics (clinical) ,Michels syndrome - 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.
- Published
- 2016