Hereditary Deletion of the Entire FAM20C Gene in a Patient With Raine Syndrome
Hereditary Deletion of the Entire FAM20C Gene in a Patient With Raine Syndrome
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DOI：
10.1002/ajmg.a.36160
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发表时间：
2013-12-01
影响因子：
2
通讯作者：
AlBalwi, Mohammed A.
中科院分区：
文献类型：
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作者：
Ababneh, Farouq K.;AlSwaid, Abdulrahman;AlBalwi, Mohammed A.
Raine 综合征是一种由 FAM20C 基因突变引起的常染色体隐性遗传疾病，其特征是全身性骨硬化伴骨膜新骨形成和独特的颅面畸形。我们报告了一个孩子，该孩子在 7p22.3 中存在 487-kb 的纯合缺失，其中包含 FAM20C。父母双方对于缺失都是杂合的。我们的患者具有常见的颅面部特征以及不常见的特征，例如舌头突出、身材矮小和远端指骨发育不全。此外，他还患有蠕虫骨和梨状孔狭窄，这些特征通常未被诊断出来。很明显，雷恩综合征的表达范围很广，在新生儿期可能并不致命。此外，由全基因缺失引起的Raine病例与由各种突变引起的病例相比，在表型上似乎没有重大差异。 (c) 2013 年 Wiley 期刊公司。
Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations. (c) 2013 Wiley Periodicals, Inc.