B3GAT3 beta-1,3-glucuronyltransferase 3

Gene info

Synonyms

GlcAT-I

Previous symbol

None

External ID

HGNC: 923
Entrez Gene: 26229
Ensembl: ENSG00000149541
UCSC: uc001ntw.3
OMIM: 606374
UniProtKB: O94766

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Bicuspid aortic valve
  • Patent foramen ovale

Extra Cardiac Phenotype

Short stature, Brachycephaly , Midface hypoplasia, Prominent forehead, Micrognathia , Microretrognathia , Flat face , Low-set ears, Dysmorphic ears, Small ears, Prominent antitragus, Uplift of earlobes , Large eyes, Protuberant eyes, Hypertelorism, Downslanting , Blue sclerae, Hyperopia, Esotropia, Amblyopia, Thick eyebrows, Depressed nasal bridge, Small mouth, Cleft palate, Small teeth, Extensive caries , Short neck, Webbed neck, Low posterior hairline, Restrictive lung disease secondary to small thorax , Narrow chest, Chest asymmetry,Pectus carinatum, Gracile ribs, 11 pairs of ribs, Protrusion of abdomen, Inguinal hernia, Diaphragmatic hernia, Hyperextensibility of large joints, Generalized osteoporosis, Early bone maturation, Dissociated bone age, Multiple fractures, Scoliosis, Osteopenia evident in childhood, Atlanto-axial instability, Atlanto-occipital instability, Hip dislocation, Mild dysplasia of hip joints, Dysmorphic appearance of femoral head, Gibbus deformity at L1 level, Shoulder dislocation, Elbow dislocation, Elbow contracture, Rhizomelic shortening, Radioulnar synostosis, Knee dislocation, Diaphyseal incurving, Dysplasia of proximal humerus, Dysplasia of glenoid, Dysplasia of distal humerus, Dysplasia of radial head, Bowing of the radius and ulna, Genu valgum, Flared epiphyses, Wrist joint laxity, Wrist joint dislocation, Interphalangeal joint laxity, Increased number of carpal ossification centers, Metacarpal shortening, Broad ends of fingers, Spatulate thumb, Metacarpophalangeal joint hyperextensibility, Broad ends of toes, Talipes equinovarus, Talipes equinovalgus, Metatarsus varus, Sandal gap, Pes planus, Hyperextensible skin, Excessive skin wrinkling of palms and soles, Thick eyebrows, Low posterior hairline, Hypotonia, Hydrocephalus, Arrested hydrocephalus, Verbal delay, Motor delay, Generalized cortical atrophy

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

No cardiovascular defect recorded in null mice

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for B3GAT3: BED file

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Selected References

  1. Jones, K. L., Schwarze, U., Adam, M. P., Byers, P. H., & Mefford, H. C. (2015). A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. American Journal of Medical Genetics Part A, 167(11), 2691–2696. DOI:10.1002/ajmg.a.37209 PMID:26086840
  2. Baasanjav, S., Al-Gazali, L., Hashiguchi, T., Mizumoto, S., Fischer, B., Horn, D., … Hoffmann, K. (2011). Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects. The American Journal of Human Genetics, 89(1), 15–27. DOI:10.1016/j.ajhg.2011.05.021 PMID:21763480
  3. Bloor, S., Giri, D., Didi, M., & Senniappan, S. (2017). Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies. Case Reports in Genetics, 2017, 1–5. DOI:10.1155/2017/3941483 PMID:29318063
  4. Yauy, K., Tran Mau-Them, F., Willems, M., Coubes, C., Blanchet, P., Herlin, C., … Genevieve, D. (2017). B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. Genetics in Medicine, 20(2), 269–274. DOI:10.1038/gim.2017.109 PMID:28771243