Novel mutation in MASP1 gene in a new family with 3MC syndrome
Novel mutation in MASP1 gene in a new family with 3MC syndrome
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DOI：
10.1097/mcd.0000000000000256
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发表时间：
2019-04-01
影响因子：
0.7
通讯作者：
Ceylaner, Serdar
中科院分区：
文献类型：
--
作者：
Basdemirci, Muserref;Sen, Askin;Ceylaner, Serdar
Malpuech-Michels-Mingarelli-Pingvale（3 MC）综合征是由4种常染色体隐性遗传综合征合并而成的一种综合征。这些综合征分别是Mingarelli综合征、Malpuech综合征和Michels综合征。Escherovale综合征的特征在于距离过远、下斜的睑裂、斜视、上睑下垂、滑膜炎、大而多肉的耳朵和脐周围的菱形隆起（Escherovale等人，1989年）。Mingarelli综合征类似于Mingarelli综合征，具有脊柱异常和肱骨桡关节骨性结合作为额外特征（Mingarelli等人，1996年）。Malpuech综合征涉及子宫内生长受限、间距过宽、唇腭裂、小阴茎、尿道下裂、尾侧附属器和肾异常（Kerstjens-Frederikse等人，2005年）。Michels综合征的主要特征包括颅缝早闭、内眦赘皮、小睑裂、前房异常和唇腭裂（Michels等人，1978年）。虽然这四个实体有明显不同的关键特征，但它们在面部完形中有许多相似之处。由于这些相似性，已经假设这四种综合征属于被称为“3 MC综合征”的相同病症（Titomanlio等人，2005年）。MASP 1或COLEC 11基因的纯合突变是3 MC综合征的主要原因。最近，COLEC 10基因被发现是该疾病的原因。在这里，我们报告了三个新的病人与3 MC综合征在土耳其家庭。MASP 1基因的序列分析显示了一个新的纯合错义突变，c。2111 T> G（p.V704G），位于第11外显子。
BackgroundMalpuech–Michels–Mingarelli–Carnevale (3MC) syndrome consists of a combination of four autosomal recessive syndromes that were considered to be different syndromes previously. These syndromes are Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. Carnevale syndrome is characterized by hypertelorism, downslanting palpebral fissures, strabismus, ptosis, synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus (Carnevale et al., 1989). Mingarelli syndrome is similar to Carnevale syndrome, with spinal anomalies and humeroradial synostosis as additional features (Mingarelli et al., 1996). Malpuech syndrome involves intrauterine growth restriction, hypertelorism, cleft lip and palate, micropenis, hypospadias, caudal appendage, and renal anomalies (Kerstjens-Frederikse et al., 2005). The main features of Michels syndrome include craniosynostosis, epicanthus inversus, blepharophimosis, anterior chamber anomalies, and cleft lip and palate (Michels et al., 1978). Although these four entities have apparently distinctive key features, they share multiple similarities in the facial gestalt. Because of these similarities, it has been assumed that these four syndromes belong to the same condition referred to as ‘3MC syndrome’(Titomanlio et al., 2005). Homozygous mutations in either MASP1 or COLEC11 genes are the leading cause of 3MC syndrome. Recently, the COLEC10 gene was discovered as the cause of the disease. Here, we report three new patients with 3MC syndrome in a Turkish family. Sequence analysis of the MASP1 gene showed a novel homozygous missense mutation, c. 2111T> G (p. V704G), in the 11th exon.