About: Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism

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About: Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
Creator	Xiang, Rong Yu, Fang Jiao, Zi-Jun Jin, Jie-Yuan Tang, Ju-Yu Yuan, Zhuang-Zhuang
Source	Medline; PMC
abstract	Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2–5 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.
has issue date	2020-06-15(xsd:dateTime)
bibo:doi	10.1042/bsr20200509
bibo:pmid	32478388
has license	cc-by
sha1sum (hex)	7543b63ca794d20ce5aa6b5344ad01e3d3dcb6f0
schema:url	https://doi.org/10.1042/bsr20200509
resource representing a document's title	Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
has PubMed Central identifier	PMC7295635
has PubMed identifier	32478388
schema:publication	Biosci Rep
resource representing a document's body	covid:7543b63ca794d20ce5aa6b5344ad01e3d3dcb6f0#body_text
is schema:about of	named entity 'genetic' named entity 'proximal interphalangeal joints' named entity 'responsible' named entity 'carpal' named entity 'conductive hearing loss' named entity 'proximal interphalangeal joints' named entity 'Han Chinese' named entity 'lesion' named entity 'candidate gene' named entity 'ankylosis' named entity 'carpal' named entity 'proximal interphalangeal joints' named entity 'PP1' named entity 'signal pathway' named entity 'proximal interphalangeal joint' named entity 'exome sequencing' named entity 'Illumina' named entity 'lesion' named entity 'family history' named entity 'bone diseases' named entity 'osteoblasts' named entity 'noggin' named entity 'genetic counseling' named entity 'synonymous mutations' named entity 'frameshift' named entity 'Valencia, CA' named entity 'hereditary disorder' named entity 'bioinformatics' named entity 'SWISS-MODEL' named entity 'noggin' named entity 'tarsal bone' named entity 'ACMG' named entity 'mesenchymal cells' named entity 'hyperopia' named entity 'cell proliferation' named entity 'protein' named entity 'carpal coalition' named entity 'synostoses' named entity 'exome sequencing' named entity 'Bioinformatics' named entity 'proband' named entity 'clinical diagnosis' named entity 'noggin' named entity 'kilobases' named entity 'BMP' named entity 'written consent' named entity 'noggin' named entity 'China' named entity 'noggin' named entity 'tarsal' named entity 'tarsal' named entity 'animal species' named entity 'proband' named entity 'gene' named entity 'hearing loss' named entity 'high-throughput sequencing' named entity 'proband' named entity 'protein' named entity 'carpal coalition' named entity 'clinical diagnosis' named entity 'ACMG' named entity 'bone diseases' named entity 'gene function' named entity 'bone development' named entity 'Genome' named entity 'hands and feet' named entity 'BMPs' named entity 'proband' named entity 'protein' named entity 'ankylosis' named entity 'U.S.A' named entity 'protein' named entity 'Inheritance pattern' named entity 'U.S.A.' named entity 'proband' named entity 'Exon'

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