2013
DOI: 10.1136/jmedgenet-2013-101525
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Abstract: Our results suggest that exon 7 skipping in the BSCL2 gene due to the c.985C>T mutation is responsible for a novel early onset, fatal neurodegenerative syndrome involving cerebral cortex and basal ganglia.

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Cited by 62 publications
(62 citation statements)
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References 32 publications
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“…The sequencing analysis identified three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2 . In addition, six previously reported mutations were identified; c.589‐2A>G (p.Gln196fs*228) , c.202C>T (p.Arg68*) in AGPAT2 and c.412C>T (p.Arg138*) , c.317_321del (p.Tyr106Cysfs*6) , c.672‐2A>C and c.636del (p.Tyr213Thrfs*20) in BSCL2 . The details of these results are described in Appendix S1.…”
Section: Resultsmentioning
confidence: 94%
“…The sequencing analysis identified three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2 . In addition, six previously reported mutations were identified; c.589‐2A>G (p.Gln196fs*228) , c.202C>T (p.Arg68*) in AGPAT2 and c.412C>T (p.Arg138*) , c.317_321del (p.Tyr106Cysfs*6) , c.672‐2A>C and c.636del (p.Tyr213Thrfs*20) in BSCL2 . The details of these results are described in Appendix S1.…”
Section: Resultsmentioning
confidence: 94%
“…103 Four patients have also been reported with an early onset, fatal neurodegenerative syndrome with a CGL phenotype, with null mutations in BSCL2. 104 Interestingly, gainoffunction heterozygous BSCL2 mutations located in the Nglycosylation motif can lead to distal hereditary motor neuropathy. 105 Bscl2 -/-mice have complete loss of white adipose tissue and display most metabolic complications of human type 2 CGL, including hyperinsulinaemia, insulin resistance and hepatic steatosis; 106-108 however, these mice have lower plasma levels glucose and triglyceride upon fasting than wildtype mice, but have postpran dial hypertriglyceridaemia.…”
Section: Congenital Generalized Lipodystrophymentioning
confidence: 99%
“…In 2013, our group described a new pediatric neurodegenerative syndrome [1]. This syndrome, termed progressive encephalopathy with/without lipodystrophy or PELD (MIM: # 615924) is also known as Celia's encephalopathy.…”
Section: Introductionmentioning
confidence: 99%
“…It has a fatal prognosis and is caused by homozygosity or compound heterozygosity of a c.985C>T variant in the BSCL2 gene (NM_001122955.3). To date, seven cases have been reported [1,2], with six dying before they were 9 years old (mean, 7 years; range, 6-8 years) as a consequence of the neurodegenerative process. During early infancy, psychomotor development is normal, but individuals with PELD show signs/symptoms of developmental delay around age 3 years.…”
Section: Introductionmentioning
confidence: 99%