Ask about this productRelated genes to: PIGW antibody
- Gene:
- PIGW NIH gene
- Name:
- phosphatidylinositol glycan anchor biosynthesis class W
- Previous symbol:
- -
- Synonyms:
- Gwt1, FLJ37433
- Chromosome:
- 17q12
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-14
- Date modifiied:
- 2016-10-05
Related products to: PIGW antibody
Related articles to: PIGW antibody
- Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase. It is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the PIGV, PIGY, PIGO, PGAP2, PIGW, and PGAP3 genes, which are involved in glycosylphosphatidylinositol biosynthesis. Mutations in the PGAP3 gene cause HPMRS type 4. - Source: PubMed
Publication date: 2026/01/31
Beşen ŞeydaÖzkale YaseminSangün ÖzlemErol İlknur - Inherited glycosylphosphatidylinositol (GPI) deficiencies are a heterogeneous group of inherited disorders of glycosylation, caused by mutations in genes involved in GPI-anchored proteins (GPI-AP) biosynthesis. PIGW is a gene known to be involved in the early steps of the GPI-anchor biosynthesis, as well as functional studies for most patients. Biallelic mutations in PIGW have been previously linked to hyperphosphatasia with mental retardation syndrome 5, also known as glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11). - Source: PubMed
Publication date: 2025/03/25
Rabouhi NazimSalian SmrithiBenkerroum HindYoshida TakeshiUddin HumayraNguyen Thi Tuyet MaiFujita TakakoHirose ShinichiKosaki KenjiroLefebvre MathildeBourgon NicolasThauvin-Robinet ChristelKamalova AelitaShakhirova AlmaziyaGill HarinderLee Hyun KyungMenke Leonie AKinoshita TarohMurakami YoshikoCampeau Philippe M - We present a case of a fetus from a Chinese family. Ultrasound examination during the second trimester revealed increased fetal abdominal circumference, enlarged liver, tent-like mouth, frequent tongue movement, micro-fist-like hands in fixed positions, hydronephrosis with bilateral ectopic ureteral openings, scrotal echoes visible in the external genitalia, no significant penile echo, and polyhydramnios. To determine the genetic cause of this fetus, we performed a prenatal diagnosis. - Source: PubMed
Publication date: 2025/04/03
Chen XinChen JingQiang KunkunLuo Hong - Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare recessive genetic conditions characterised by developmental delays and an early onset epilepsy caused by disruptions in the glycosylphosphatidylinositol-anchored biosynthetic pathway. In this study, we identified eight variants in phosphatidyl inositol glycan (PIG) genes from four IGDs families through whole-exome sequencing (WES). The variants included one in PIGA, two in PIGW and five in PIGN, with five being novel variants. Functional analysis confirmed the pathogenicity of the PIGN (c.1117-12C>G) and PIGW (c.1112delT and c.659T>G) variants. According to ACMG/AMP guidelines, four novel variants were classified as pathogenic or likely pathogenic. Families I and III successfully delivered healthy children after prenatal diagnosis. This study identified the pathogenic causes of four IGD pedigrees, expanded the mutation spectrum of PIG genes and provided a theoretical basis for reproductive interventions in such families. - Source: PubMed
Publication date: 2025/02/09
Zhao Zi-XiZhou Jing-LinWang QiPeng SongminPeng YaoWang Yu-RongHu LiangAiyitahong RejimaPeng LinGu FengLu Guang-XiuLin GeChen SongTan Yue-QiuDu JuanHe Wen-Bin - Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia. We also illustrate evolving facial appearance and biochemical abnormalities. We identify two novel genotypes and the first frameshift variant, supporting a loss-of-function pathogenic mechanism. By merging our cohort with patients documented in the literature, we deeply analyzed the clinical and genetic features of 16 patients with -related disorder, revealing a severe multisystemic condition deserving complex management and with uncertain long-term prognosis. We consider the role of within the critical 17q12 region, which is already associated with genomic disorders caused by deletion or duplication and characterized by variable expressivity. Finally, we discuss dosage effects and a second hit hypothesis in human development and disease. - Source: PubMed
Publication date: 2024/12/18
Feresin AgneseLefebvre MathildeSjøstrøm EmilieZanus CaterinaPaccagnella ElisaBruno IreneValencic EricaMorgan AnnaTommasini AlbertoThauvin ChristelBayat AllanGirotto GiorgiaMusante Luciana