伴有小头畸形、智力障碍、身材矮小和短指畸形的RBBP8综合征。
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
作者信息
Mumtaz Sara, Yıldız Esra, Jabeen Saliha, Khan Amjad, Tolun Aslıhan, Malik Sajid
机构信息
Department of Animal Sciences, Human Genetics Program, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
出版信息
Am J Med Genet A. 2015 Dec;167A(12):3148-52. doi: 10.1002/ajmg.a.37299. Epub 2015 Sep 3.
Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient.
原发性小头畸形在临床上具有变异性，在遗传上具有异质性。四种表型不同的常染色体隐性小头畸形综合征是由不同的RBBP8突变引起的。我们报告了一个巴基斯坦近亲家庭，该家庭中存在纯合的RBBP8突变c.1808_1809delTA（p.Ile603Lysfs*7），表现为小头畸形，并伴有骨骼、肢体和外胚层缺陷、轻度智力残疾、轻微面部异常、无甲畸形、身材比例失调的矮小症和短指畸形的独特组合，此外，一名患者还患有马蹄内翻足。
Zotero 插件