CHST14

Last update 08 May 2025

Basic Info

Synonyms

carbohydrate sulfotransferase 14, CHST14, D4ST-1

+ [4]

Introduction

Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.

100 Clinical Results associated with CHST14

100 Translational Medicine associated with CHST14

0 Patents (Medical) associated with CHST14

Literatures (Medical) associated with CHST14

01 Feb 2025·Gynecologic Oncology Reports

Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report

Article

Author: Kobara, Hisanori ; Miyamoto, Tsutomu ; Shiozawa, Tanri ; Yamaguchi, Tomomi ; Shioya, Yuta ; Kosho, Tomoki ; Ida, Koichi ; Ando, Hirofumi

IntroductionMusculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity. We report a patient with mcEDS who developed endometrial cancer and underwent surgery, with emphasis on perioperative management.Case reportA female patient, who had been genetically diagnosed with mcEDS-CHST14 at the age of 25, presented with symptoms characteristic of mcEDS, including: congenital contractures of fingers and clubfeet, recurrent joint dislocation, progressive foot and spinal deformities, and large subcutaneous hematomas. At age 33, she had been diagnosed with atypical endometrial hyperplasia, and scheduled to undergo total abdominal hysterectomy. To address the risk of massive hemorrhage during the surgery due to mcEDS-related tissue fragility, plasma-derived factor VIII concentrate was prophylactically administered before surgery. During the surgery, neither fragility, hyperextensibility, nor hemorrhagic tendency of the uterus or adnexa observed was observed. The surgery was uneventful, with blood loss of 180 mL and operative time of 2 h and 54 min. However, on the sixth postoperative day, a 2.5-cm dissection was noted at the site of skin incision. Subcutaneous fluid accumulation developed under the skin incision and it persisted for 1.5 months. The postoperative pathological diagnosis was endometrioid carcinoma grade 1, stage IA.ConclusionThe present case suggested that the prophylactic use of factor VIII was effective for the prevention of hemorrhage during surgery. However, delayed wound healing of the skin and subcutaneous tissues was considered a subject for future improvement.

01 Dec 2024·Clinical Cardiology

Exome Sequencing Identified Susceptible Genes for High Residual Risks in Early‐Onset Coronary Atherosclerotic Disease

Article

Author: Shen, Juan ; Yao, Kang ; Gao, Wei ; Ge, Junbo ; Ma, Yuanji ; Wu, Runda ; Su, Ya ; Dai, Yuxiang ; Dong, Zheng ; Liao, Jianquan

ABSTRACTAimsDespite the tremendous improvement in therapeutic medication and intervention for coronary atherosclerotic disease (CAD), residual risks remain. Exome sequencing enables identification of rare variants and susceptibility genes for residual risks of early‐onset coronary atherosclerotic disease (EOCAD) with well‐controlled conventional risk factors.MethodsWe performed whole‐exome sequencing of subjects who had no conventional risk factors, defined as higher body mass index, smoking, hypertension and dyslipidemia, screened from 1950 patients with EOCAD (age ≤ 45 years, at least 50% stenosis of coronary artery by angiography), and selected control subjects from 1006 elder (age ≥ 65 years) with < 30% coronary stenosis. Gene‐based association analysis and clinical phenotypic comparison were conducted.ResultsSubjects without defined conventional risk factors accounted for 4.72% of young patients. Totally, 6 genes might be associated with residual risk of EOCAD, namely CABP1 (OR = 22.19, p = 0.02), HLA‐E (OR = 22.19, p = 0.02), TOE1 (OR = 33.6, p = 0.002), HPSE2 (OR = 11.1, p = 0.04), CHST14 (OR = 22.19, p = 0.02) as well as KLHL8 (OR = 22.19, p = 0.02). Phenotypic analysis displayed the levels of low‐density lipoprotein cholesterol in carriers of mutations from CABP1, HLA‐E, TOE1, and HPSE2 were significantly elevated compared to noncarriers. Notably, extracellular matrix‐associated CHST14 and fibrinogen‐associated KLHL8 both displayed possible correlation with increased neutrophil proportion and decreased monocyte percentage (both p < 0.05), exerting potential effects on the residual inflammatory risks of EOCAD.ConclusionThe study identified six genes related to dyslipidemia and inflammation pathways with potential association with residual risk of EOCAD, which will contribute to precision‐based prevention in these patients.Trial RegistrationThe GRAND study was registered at www.clinicaltrials.gov on July 14, 2015, and the registry number is NCT 02496858.

01 Nov 2024·Pediatric Dermatology

Musculocontractural type of Ehlers–Danlos syndrome with novel CHST14 pathogenic variant in two siblings

Article

Author: Sarkar, Namrata ; Verma, Prashant Kumar ; Sharma, Shruti ; Bhatia, Riti ; KS, Aswanth ; Singh, Vivek

AbstractMusculocontractural Ehlers–Danlos syndrome (MC‐EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.

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CHST14

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