Abstract:
BACKGROUND:Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting. CASE PRESENTATION:In this study, we performed whole exome sequencing (WES) in a Tunisian family with two young cases having developmental delay, hypotonia, autism spectrum disorder, ptosis and thick hair and eyebrows. The proposita presented also pigmentory retinopathy. Compound heterozygous mutation in VPS13B gene was detected by WES. This mutation inherited from healthy heterozygous parents, supports an unpredictable clinical diagnosis of Cohen Syndrome. The proband's phenotype is explained by the presence of compound heterozygous mutations in the VPS13B gene. This finding refined the understanding of genotype-phenotype correlation. CONCLUSIONS:This is the first report of a Tunisian family with Cohen syndrome mutated in the VPS13B gene.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Rejeb I,Jilani H,Elaribi Y,Hizem S,Hila L,Zillahrdt JL,Chelly J,Benjemaa Ldoi
10.1186/s12881-017-0493-5subject
Has Abstractpub_date
2017-11-17 00:00:00pages
134issue
1issn
1471-2350pii
10.1186/s12881-017-0493-5journal_volume
18pub_type
杂志文章abstract:BACKGROUND:Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% o...
journal_title:BMC medical genetics
pub_type: 杂志文章
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journal_title:BMC medical genetics
pub_type: 杂志文章
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2009-03-23 00:00:00
abstract:BACKGROUND:Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase ...
journal_title:BMC medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章,meta分析
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2018-09-10 00:00:00
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journal_title:BMC medical genetics
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pub_type: 杂志文章,meta分析
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更新日期:2015-07-26 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2010-01-20 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2008-04-10 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2017-12-19 00:00:00
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更新日期:2016-09-05 00:00:00
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更新日期:2011-11-22 00:00:00
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pub_type: 杂志文章
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更新日期:2012-03-29 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2007-12-21 00:00:00
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更新日期:2018-06-18 00:00:00
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journal_title:BMC medical genetics
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pub_type: 杂志文章
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更新日期:2019-02-08 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2010-03-31 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2016-03-09 00:00:00
abstract:BACKGROUND:We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) require...
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pub_type: 杂志文章
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更新日期:2020-05-24 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2012-03-19 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
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更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...
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更新日期:2019-02-19 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2019-05-22 00:00:00