ArticleEuropean journal of human genetics : EJHG2016
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- Genome-Wide Association Study Identifies Candidate Genes for Body Size Traits in Wanyue Black Pigs.Animals : an open access journal from MDPI · 2025Article
- Astral-DIA proteomics and 4D label-free N-glycoproteomics of milk fat globule membrane proteins reveal distinct profiles between yak colostrum and mature milk.Food chemistry: X · 2025Article
- Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.Journal of the American Society of Nephrology : JASN · 2025Article
- Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.Frontiers in genetics · 2025Article
- Article
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.Journal of medical genetics · 2022Article
- Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.Diagnostics (Basel, Switzerland) · 2021Review
- Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.Pediatric nephrology (Berlin, Germany) · 2021Article
- Congenital Disorders of Glycosylation: What Clinicians Need to Know?Frontiers in pediatrics · 2021Review
- Article
- Aberrant mannosylation profile and FTX/miR-342/ALG3-axis contribute to development of drug resistance in acute myeloid leukemia.Cell death & disease · 2018Article
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- ALG9-CDG: New clinical case and review of the literature.Molecular genetics and metabolism reports · 2017Article
- What is new in CDG?Journal of inherited metabolic disease · 2017Review
- Isolated polycystic liver disease genes define effectors of polycystin-1 function.The Journal of clinical investigation · 2017Article
- Article
- Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.Clinical mass spectrometry (Del Mar, Calif.) · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affected fetuses with Gillessen-Kaesbach-Nishimura syndrome using whole-exome and Sanger sequencing, comparative genome hybridization and homozygosity mapping. All affected patients were shown to have a novel homozygous splice variant NM_024740.2: c.1173+2T>A in the ALG9 gene, encoding alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation. RNA analysis demonstrated skipping of exon 10, leading to shorter RNA. Mass spectrometric analysis showed an increase in monoglycosylated transferrin as compared with control tissues, confirming that this is a congenital disorder of glycosylation (CDG). Only three liveborn children with ALG9-CDG have been previously reported, all with missense variants. All three suffered from intellectual disability, muscular hypotonia, microcephaly and renal cysts, but none had skeletal dysplasia. Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype. The skeletal features overlap with that previously reported for ALG3- and ALG12-CDG, suggesting that this subset of glycosylation disorders constitutes a new diagnostic group of skeletal dysplasias.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.