C1orf127
- Known as:
- C1orf127
- Catalog number:
- 002834A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf127
Related genes to: C1orf127
- Gene:
- C1orf127 NIH gene
- Name:
- chromosome 1 open reading frame 127
- Previous symbol:
- -
- Synonyms:
- FLJ37118
- Chromosome:
- 1p36.22
- Locus Type:
- gene with protein product
- Date approved:
- 2005-06-23
- Date modifiied:
- 2016-09-30
Related products to: C1orf127
Related articles to: C1orf127
- Congenital heart disease (CHD) affects approximately 1% of liveborn infants. Among primary ciliary dyskinesia (PCD) cases, about 50% present with situs inversus totalis, and 6.3% have heterotaxy with CHD. The incidence of CHD is significantly higher in heterotaxy patients compared to the general population (57% vs. 1%). However, comprehensive studies on CHD related to laterality defects are still limited. In this study, we retrospectively analyzed 18,781 CHD patients to determine the prevalence of laterality defects. To evaluate the association between specific complex CHD phenotypes and laterality defects, we utilized a binary logistic regression model. Additionally, we performed whole-exome sequencing (WES) on 121 CHD patients with laterality defects. The results showed that 1.1% of CHD patients had laterality defects (206/18,781), with 0.4% presenting as situs inversus totalis and 0.7% as situs ambiguus. The prevalence of laterality defects was higher in complex CHD cases (5.4%) compared to simple CHD (0.4%). Notably, single atrium with single ventricle (SA+SV) was strongly associated with laterality defects (OR = 48.23, p < 0.001). Among the 121 CHD patients with situs abnormalities, WES identified pathogenic gene variants in 13.2%, with 9.1% harboring known pathogenic genes (ZIC3, NODAL, NKX2-5, GDF1, MMP21, PKD1L1, CCDC151, DNAAF4, LRRC56) and 4.1% exhibiting variants in candidate genes (FMNL3, C1ORF127, CFAP157, C10ORF107, MYO1D). This study revealed both established and novel gene candidates, contributing to our understanding of the genetic basis of laterality defects in CHD. - Source: PubMed
Publication date: 2025/06/05
Xie Xiao-HuiGu HengYuan Zhuang-ZhuangYang Jun-LinQin Ke-leChen Jin-LanZhang Wei-ZhiXie LiYang Yi-FengTan Zhi-Ping - Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the recessive contribution to the broad range of CHD phenotypes has been limited. We analyzed whole exome sequences of 5,424 CHD probands. Rare damaging RGs were estimated to contribute to at least 2.2% of CHD, with greater enrichment among laterality phenotypes (5.4%) versus other subsets (1.4%). Among 108 curated human recessive CHD genes, there were 66 RGs, with 54 in 11 genes with >1 RG, 12 genes with 1 RG, and 85 genes with zero. RGs were more prevalent among offspring of consanguineous union (4.7%, 32/675) than among nonconsanguineous probands (0.7%, 34/4749). Founder variants in and accounted for 74% of the contribution of RGs among 410 Ashkenazi Jewish probands. We identified genome-wide significant enrichment of RGs in , encoding a likely secreted protein expressed in embryonic mouse notochord and associated with laterality defects. Single-cell transcriptomes from gastrulation-stage mouse embryos revealed enrichment of RGs in genes highly expressed in the cardiomyocyte lineage, including contractility-related genes , , and in probands with left-sided CHD, consistent with abnormal contractile function contributing to these malformations. Genes with significant RG burden account for 1.3% of probands, more than half the inferred total. These results reveal the recessive contribution to CHD, and indicate that many genes remain to be discovered, with each likely accounting for a very small fraction of the total. - Source: PubMed
Publication date: 2025/03/03
Dong WeilaiJin Sheng ChihSierant Michael CLu ZiyuLi BoyangLu QiongshiMorton Sarah UZhang JunhuiLópez-Giráldez FrancescNelson-Williams CarolKnight James RZhao HongyuCao JunyueMane ShrikantGruber Peter JLek MonkolGoldmuntz ElizabethDeanfield JohnGiardini AlessandroMital SeemaRussell MarkGaynor J WilliamCnota James FWagner MichaelSrivastava DeepakBernstein DanielPorter George ANewburger JaneRoberts Amy EYandell MarkYost H JosephTristani-Firouzi MartinKim RichardSeidman JonathanChung Wendy KGelb Bruce DSeidman Christine ELifton Richard PBrueckner Martina - Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects. While the knockout of Ciroz in mice also leads to situs anomalies, we unexpectedly find that its targeted inactivation in zebrafish and Xenopus does not lead to observable LR anomalies. Moreover, CIROZ is absent or obsolete in select animals with motile cilia at their LRO, including Carnivora, Atherinomorpha fish, or jawless vertebrates. In summary, this evo-devo study identifies CIROZ as an essential gene for breaking bilateral embryonic symmetry in humans and mice, whereas we witness its contemporary pseudogenization in discrete vertebrate species. - Source: PubMed
Publication date: 2025/01/02
Szenker-Ravi EmmanuelleOtt TimYusof AmirahChopra MayaKhatoo MuznahPak BeatriceXuan Goh WeiBeckers AnjaBrady Angela FEwans Lisa JDjaziri NabilaAlmontashiri Naif A MAlghamdi Malak AliAlharby EssaDasouki MajedRomo LindsayTan Wen-HannMaddirevula SateeshAlkuraya Fowzan SGiordano Jessica LAlkelai AnnaWapner Ronald JStals KarenAlfadhel MajidAlswaid Abdulrahman FaizBogusch SusanneSchafer-Kosulya AnnaVogel SebastianVick PhilippSchweickert AxelWakeling MatthewMoreau de Bellaing AnneAlshamsi Aisha MSanlaville DamienMbarek HamdiSaad ChadiEllard SianEisenhaber FrankTripolszki KorneliaBeetz ChristianBauer PeterGossler AchimEisenhaber BirgitBlum MartinBouvagnet PatriceBertoli-Avella AidaAmiel JeanneGordon Christopher TReversade Bruno - Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive. Here, we sought to describe the yield of genetic analysis and spectrum of variants in HTX in our highly consanguineous population. Twenty-four affected individuals, from 19 unrelated families, were consecutively recruited. Genetic analysis, with exome sequencing, genome sequencing, or multigene panel, detected 9 unique variants, 7 of which were novel, in 8 genes known to be implicated in autosomal recessive form of HTX (C1orf127, CCDC39, CIROP, DNAAF3, DNAH5, DNAH9, MMP21, and MNS1) providing a yield of 42.1%. Of note, 7 of the 9 variants were homozygous, while 2 were inherited in compound heterozygosity, including a heterozygous CNV deletion. A search for candidate genes in negative cases did not reveal a plausible variant. Our work demonstrates a relatively high yield of genetic testing in HTX in a consanguineous population with an enrichment of homozygous variants. The significant genetic heterogeneity observed herewith underscores the complex developmental mechanisms implicated in the pathogenesis of HTX and supports adopting a genome-wide analysis in the diagnostic evaluation of HTX. - Source: PubMed
Publication date: 2024/11/08
Al-Korashy MaarabBinomar HadeelAl-Mostafa AbeerAl-Mogarri IbrahimAl-Oufi SaudAl-Admawi MohamedAl-Jufan MansourEchahidi NajmeddineMokeem AmalAlfares AhmedRamzan KhushnoodaTulbah SaharAl-Qahtani AishaTakroni SaudMaddirevula SateeshAl-Hassnan Zuhair - Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the chart review were consolidated using the Ensembl Variant Effect Predictor. The multidimensional dataset of scores was clustered into three groups based on their pathogenicity. Sequence alignment and the Jensen-Shannon Divergence (JSD) were generated to evaluate the amino acid conservation at the site of the variation. One-hundred and twelve variants of 28 genes linked to PCD were identified in 66 patients. Twenty-two variants were double heterozygous, two triple heterozygous, and seven homozygous. Of the thirteen novel variants, two, c.11839 + 1G > A in dynein, axonemal, heavy chain 11 () and p.Lys92Trpfs in dynein, axonemal, intermediate chain 1 (DNAI1) were associated with dextrocardia with situs inversus, and one, p.Gly21Val in coiled-coil domain-containing protein 40 (CCDC40), with absent inner dynein arms. Homozygous :p.Arg113Ter (rs558323413) was also associated with laterality defects in two related patients. The majority of variants were missense involving conserved residues with a median JSD score of 0.747. Homology models of two deleterious variants in the stalk of DNAH11, p.Gly3102Asp and p.Leu3127Arg, revealed structural importance of the conserved glycine and leucine. These results define potentially damaging PCD variants in the region. Future studies, however, are needed to fully comprehend the genetic underpinnings of PCD. - Source: PubMed
Publication date: 2021/10/30
Alsamri Mohammed TAlabdouli AmnahIram DurdanaAlkalbani Alia MAlmarzooqi Ayesha SSouid Abdul-KaderVijayan Ranjit