Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.
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.
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.
Shwetha
S
Chiplunkar
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in.
Parayil Sankaran
0000-0002-1914-9505
PS
Bindu
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Madhu
M
Nagappa
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Cheminikara
C
Bineesh
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Periyasamy
P
Govindaraj
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Narayanappa
N
Gayathri
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
M M Srinivas
MM
Bharath
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Hanumanthapura R
HR
Arvinda
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Pavagada S
PS
Mathuranath
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Sanjib
S
Sinha
Neuromuscular Lab-Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.|Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
Arun B
AB
Taly
D020029:Base Pairing / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities / Q000378:metabolism; D002570:Ceruloplasmin / Q000235:genetics / Q000378:metabolism; D003300:Copper / Q000378:metabolism*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008659:Metabolic Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome
D026901:Membrane Transport Proteins; C484549:SLC33A1 protein, human; D003300:Copper; D002570:Ceruloplasmin
Acetyl co a transporter; Ceruloplasmin; Congenital cataract; Copper; Hypo- myelination; SLC33A1