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Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
Author(s) -
Urquhart Jill,
Roberts Rebecca,
de Silva Deepthi,
Shalev Stavit,
Chervinsky Elena,
Nampoothiri Sheela,
Sznajer Yves,
Revencu Nicole,
Gunasekera Romesh,
Suri Mohnish,
Ellingford Jamie,
Williams Simon,
Bhaskar Sanjeev,
ClaytonSmith Jill
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37564
Subject(s) - hypertelorism , genitourinary system , consanguinity , genetic syndromes , genetics , medicine , biology , anatomy , pediatrics
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. © 2016 Wiley Periodicals, Inc.