Abstract:
BACKGROUND:Congenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5-1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the genetic cause of remaining CS is unknown. METHODS:We recruited 78 CS patients without TBX6 mutations and major comorbidities, and investigated the genes previously reported to be associated with CS and congenital vertebral malformations by whole-exome sequencing. RESULTS:We identified the compound heterozygous missense variants in LFNG in one patient. No likely disease-causing variants were identified in other patients, however. LFNG encodes a GlcNAc-transferase. The LFNG variants showed loss of their enzyme function. CONCLUSIONS:A LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. The CS patient with LFNG mutations had multiple vertebral malformations including hemivertebrae, butterfly vertebrae, and block vertebrae, and rib malformations. LFNG mutations may cause a spectrum of phenotypes including CS and SCD. The current list of known disease genes could explain only a small fraction of genetic cause of CS.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Takeda K,Kou I,Mizumoto S,Yamada S,Kawakami N,Nakajima M,Otomo N,Ogura Y,Miyake N,Matsumoto N,Kotani T,Sudo H,Yonezawa I,Uno K,Taneichi H,Watanabe K,Shigematsu H,Sugawara R,Taniguchi Y,Minami S,Nakamura M,Matsumdoi
10.1002/mgg3.466subject
Has Abstractpub_date
2018-11-01 00:00:00pages
966-974issue
6issn
2324-9269journal_volume
6pub_type
杂志文章abstract:BACKGROUND:HNF1A gene regulates liver-specific genes, and genes that have a role in glucose metabolism, transport, and secretion of insulin. HNF1A gene mutations are frequently associated with type 2 diabetes. HNF1A protein has three domains: the dimerization domain, the DNA-binding domain, and the trans-activation dom...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2017-01-26 00:00:00
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH1, APEX1, MUTYH, OGG1, NUDT1, XRCC5, XPA, and ERCC2 single nucleotide polymorphisms (SNPs) are associated with colorectal cance...
journal_title:Molecular genetics & genomic medicine
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更新日期:2018-04-17 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2019-01-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2020-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2019-05-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2020-12-11 00:00:00