Abstract:
:To date, less than 10 pedigrees have been reported with ZNF335 mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents. Trio whole genome sequencing identified previously unreported compound heterozygous variants in ZNF335, namely, c.3889T > A p.(Ser1297Thr) and c.758G > A p.(Arg253Gln) where transmitted by his father and mother, respectively. Patient' magnetic resonance imaging findings were overlapping to those observed in the previous cases with ZNF335 mutations. Here we report the oldest patient with biallelic ZNF335 mutations. We recommend screening for ZNF335 defects in patients with basal ganglia anomaly, secondary white matter abnormalities and microcephaly.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
Caglayan AO,Yaghouti K,Kockaya T,Kemer D,Cankaya T,Ameziane N,Cogulu O,Coker M,Yalcinkaya Cdoi
10.1080/01677063.2020.1833006subject
Has Abstractpub_date
2020-11-20 00:00:00pages
1-6eissn
0167-7063issn
1563-5260pub_type
杂志文章abstract::otal (ota=olfactory trap abnormal), an X-linked mutation of Drosophila isolated by virtue of abnormal olfactory behavior, is shown to be an allele of rdgB (retinal degeneration B), a gene required for normal visual system physiology. rdgB function is shown to be necessary for olfactory response of both adult files and...
journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677060701695441
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abstract::Mutations at two fragile sites, FRAXA and FRAXE, loci are caused by an expansion of a CGG/GCC trinucleotide repeat and are characterized by mental retardation. Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRA...
journal_title:Journal of neurogenetics
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journal_title:Journal of neurogenetics
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journal_title:Journal of neurogenetics
pub_type: 杂志文章
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journal_title:Journal of neurogenetics
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journal_title:Journal of neurogenetics
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journal_title:Journal of neurogenetics
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journal_title:Journal of neurogenetics
pub_type: 杂志文章
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journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.1080/01677063.2018.1556651
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journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677069809108560
更新日期:1998-11-01 00:00:00
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journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677069609107063
更新日期:1996-12-01 00:00:00
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journal_title:Journal of neurogenetics
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journal_title:Journal of neurogenetics
pub_type: 杂志文章
doi:10.3109/01677068609106848
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journal_title:Journal of neurogenetics
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doi:10.3109/01677068609106856
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journal_title:Journal of neurogenetics
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abstract::From Sydney Brenner's backyard to hundreds of labs across the globe, inspiring six Nobel Prize winners along the way, Caenorhabditis elegans research has come far in the past half century. The journey is not over. The virtues of C. elegans research are numerous and have been recounted extensively. Here, we focus on th...
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