一种导致2型耳颞综合征且严重程度不一的家族性PLCB4突变。
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
作者信息
Nabil Amira, El Shafei Sahar, El Shakankiri Nihal M, Habib Ahmed, Morsy Heba, Maddirevula Sateesh, Alkuraya Fowzan S
机构信息
Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.
Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.
出版信息
Eur J Med Genet. 2020 Jun;63(6):103917. doi: 10.1016/j.ejmg.2020.103917. Epub 2020 Mar 19.
Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ''question-mark ear syndrome'' or ''dysgnathia complex'', is a rare craniofacial malformation of first and second branchial arches with a prevalence of <1/1,000,000. It is characterized by a distinctive auricular malformation (question mark ear (QME)) and highly variable mandibular anomalies. Variants found in PLCB4, GNAI3, and in EDN1 genes are responsible for >90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families.
耳髁综合征（ARCND，MIM编号#614669、#602483和#615706）；也被称为“问号耳综合征”或“颌骨发育异常综合征”，是一种罕见的第一和第二鳃弓颅面畸形，患病率<1/1,000,000。其特征为独特的耳部畸形（问号耳（QME））和高度可变的下颌骨异常。在PLCB4、GNAI3和EDN1基因中发现的变异导致超过90%的检测ARCND患者发病。对一个家族内变异性高的多代埃及家族进行全外显子测序，发现PLCB4基因中一个已知的杂合错义变异（NM_000933.3:c.1862G>A:p.(Arg621His)）。本报告将分子特征明确的ARCND患者数量增加到29例，并强调了家族内临床表现的高度变异性。
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