In 2013, Guillén-Navarro et al. (
1
) described 6 Spanish patients from Murcia, Spain, affected with a lethal neurodegenerative
syndrome during infancy. All the patients were homozygous or compound heterozygous
for a rare BSCL2 exon 7–skipping variant. This disorder was called progressive encephalopathy with
or without lipodystrophy, or Celia's encephalopathy (
2
). Since then, no other case has been published, and the phenotypic variability of
this genetic event remains unknown. Here, we report a female patient with regressive
autism spectrum disorder (ASD) who developed atypical parkinsonism in adulthood. The
patient carried two different potentially pathogenic variants that affected splicing
of exon 7 in BSCL2.To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Biological PsychiatryAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- A new seipin-associated neurodegenerative syndrome.J Med Genet. 2013; 50: 401-409
- Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.Neurobiol Dis. 2015; 83: 44-53
- Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.PLoS One. 2013; 8: e61365
- Cloning of the promoter of NDE1, a gene implicated in psychiatric and neurodevelopmental disorders through copy number variation.Neuroscience. 2016; 324: 262-270
- Skipped BSCL2 transcript in Celia's Encephalopathy (PELD): New insights on fatty acids involvement, senescence and adipogenesis.PLoS One. 2016; 11: e0158874
- Seipin ablation in mice results in severe generalized lipodystrophy.Hum Mol Genet. 2011; 20: 3022-3030
- Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.Hum Mol Genet. 2015; 24: 4238-4249
- Seipin regulates excitatory synaptic transmission in cortical neurons.J Neurochem. 2013; 124: 478-489
- Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.J Neurochem. 2014; 129: 328-338
- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.J Med Genet. 2002; 39 (Erratum in: J Med Genet (2003) 40:150): 722-733
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.Nat Genet. 2001; 28: 365-370
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.Nat Genet. 2004; 36: 271-276
- N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.Hum Mol Genet. 2011; 20: 3831-3840
- Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARγ.Hum Mol Genet. 2014; 23: 4094-4102
- Additive effect of variably penetrant 22q11.2 duplication and pathogenic mutations in autism spectrum disorder: To which extent does the tree hide the forest?.J Autism Dev Disord. 2018; 48: 2886-2889
Article Info
Publication History
Published online: August 24, 2018
Accepted:
May 4,
2018
Received in revised form:
May 4,
2018
Received:
November 7,
2017
Identification
Copyright
© 2018 Society of Biological Psychiatry.
