Chiplunkar Shwetha, Bindu Parayil Sankaran, Nagappa Madhu, Bineesh Cheminikara, Govindaraj Periyasamy, Gayathri Narayanappa, Bharath M M Srinivas, Arvinda Hanumanthapura R, Mathuranath Pavagada S, Sinha Sanjib, Taly Arun B
Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Metab Brain Dis. 2016 Oct;31(5):1195-8. doi: 10.1007/s11011-016-9854-6. Epub 2016 Jun 15.
Huppke -Brendel syndrome is a new addition to the evolving spectrum of copper metabolism defects. It is an autosomal recessive disorder characterized by congenital cataract, impaired hearing, and developmental delay with low copper and ceruloplasmin. It is caused by defects in SLC33A1 that codes for acetyl CoA transporter protein. Reports on variation in this gene causing human disease is extremely scarce and the metabolic link between this gene and copper metabolism is yet to be identified. Here we report a seven months old infant with Huppke-Brendel Syndrome. In addition to the already reported features, he also had hypo pigmented hair and hypogonadism. His magnetic resonance imaging revealed hypo myelination and cerebellar hypoplasia. Clinical exome sequencing revealed a homozygous two base pair deletion, c.542_543delTG (p.Val181GlyfsTer6) in exon 1 of the SLC33A1. This report expands the phenotypic and genotypic spectrum of Huppke Brendel syndrome.
胡普克-布伦德尔综合征是不断演变的铜代谢缺陷谱系中的新增病症。它是一种常染色体隐性疾病，其特征为先天性白内障、听力受损以及伴有低铜和低铜蓝蛋白的发育迟缓。它由编码乙酰辅酶A转运蛋白的SLC33A1基因缺陷引起。关于该基因变异导致人类疾病的报道极为稀少，且该基因与铜代谢之间的代谢联系尚待确定。在此，我们报告一名患有胡普克-布伦德尔综合征的七个月大婴儿。除了已报道的特征外，他还患有色素减退性毛发和性腺功能减退。他的磁共振成像显示髓鞘形成减少和小脑发育不全。临床外显子组测序显示SLC33A1基因第1外显子存在纯合性两个碱基对缺失，即c.542_543delTG（p.Val181GlyfsTer6）。本报告扩展了胡普克-布伦德尔综合征的表型和基因型谱系。
