导致埃勒斯-当洛综合征肌肉挛缩型的基因中的新突变。
Novel mutation in the gene causing musculocontractural type of Ehlers-Danlos syndrome.
作者信息
Sandal Sapna, Kaur Anupriya, Panigrahi Inusha
机构信息
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
出版信息
BMJ Case Rep. 2018 Sep 23;2018:bcr-2018-226165. doi: 10.1136/bcr-2018-226165.
Abstract
Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 () gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.
摘要
埃勒斯-当洛综合征肌肉挛缩型（MC-EDS）是一种最近才被认识的结缔组织疾病。MC-EDS由15号染色体q15区域的碳水化合物硫酸转移酶14（）基因纯合或复合杂合突变引起。在此，我们报告一例3岁患MC-EDS的男孩，该病例中发现了该基因的一种新突变。这不仅是来自印度的关于这种罕见疾病的第二篇报道，而且该患儿直至3岁都没有出现之前报道中所述的任何出血倾向。
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