title: Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
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.
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, United Kingdom.|Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.
authors.forename: Jill
authors.initials: J
authors.lastname: Urquhart
authors.affiliation: Manchester Medical School, University of Manchester, Manchester, United Kingdom.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Roberts
authors.affiliation: Faculty of Medicine, Department of Physiology, University of Kelaniya, Ragama, Sri Lanka.
authors.forename: Deepthi
authors.initials: D
authors.lastname: de Silva
authors.affiliation: Genetic Institute, Ha'Emek Medical Center, Afula, Israel.
authors.forename: Stavit
authors.initials: S
authors.lastname: Shalev
authors.affiliation: Genetic Institute, Ha'Emek Medical Center, Afula, Israel.
authors.forename: Elena
authors.initials: E
authors.lastname: Chervinsky
authors.affiliation: Amrita Institute of Medical Sciences, Kochi, Kerala, India.
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.affiliation: Cliniques Universitaires Saint-Luc, Centre for Human Genetics, Brussels, Belgium.
authors.forename: Yves
authors.initials: Y
authors.lastname: Sznajer
authors.affiliation: Cliniques Universitaires Saint-Luc, Centre for Human Genetics, Brussels, Belgium.
authors.forename: Nicole
authors.initials: N
authors.lastname: Revencu
authors.affiliation: Department of Plastic Surgery, Lady Ridgeway Hospital, Colombo, Sri Lanka.
authors.forename: Romesh
authors.initials: R
authors.lastname: Gunasekera
authors.affiliation: Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom.
authors.forename: Mohnish
authors.initials: M
authors.lastname: Suri
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Human Development, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, United Kingdom.|Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.
authors.forename: Jamie
authors.initials: J
authors.lastname: Ellingford
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.
authors.forename: Simon
authors.initials: S
authors.lastname: Williams
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Bhaskar
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, United Kingdom.
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics* / Q000503:physiopathology; D002972:Cleft Palate / Q000235:genetics* / Q000503:physiopathology; D037222:Collectins / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics / Q000503:physiopathology; D005145:Face / Q000002:abnormalities / Q000503:physiopathology; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008297:Male; D050606:Mannose-Binding Protein-Associated Serine Proteases / Q000235:genetics*; D009154:Mutation; D017421:Sequence Analysis; D014564:Urogenital Abnormalities / Q000235:genetics / Q000503:physiopathology
chemical_list: C518521:Colec11 protein, human; D037222:Collectins; C084067:MASP1 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases
keywords: 3MC syndrome; COLEC11; Carnevale syndrome; MASP1; Malpuech syndrome; Michels syndrome; Mingarelli syndrome