Format

Send to

Choose Destination
Metab Brain Dis. 2016 Oct;31(5):1195-8. doi: 10.1007/s11011-016-9854-6. Epub 2016 Jun 15.

Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.

Author information

1
Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
2
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
3
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in.
4
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in.
5
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
6
Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
7
Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
8
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.

Abstract

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.

KEYWORDS:

Acetyl co a transporter; Ceruloplasmin; Congenital cataract; Copper; Hypo- myelination; SLC33A1

PMID:
27306358
DOI:
10.1007/s11011-016-9854-6
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center