EC Number   |
Application |
Reference |
|---|
   2.4.1.261 | medicine |
ALG9 homozygous splice variant NM_024740.2: c.1173+2T4A causes skipping of exon 10, leading to shorter RNA and resulting in an increase in monoglycosylated transferrin. Patients show a lethal skeletal dysplasia with visceral malformations as the most severe phenotype, i.e. Gillessen-Kaesbach-Nishimura skeletal dysplasia |
759140 |
| 2.4.1.261 | medicine |
homozygous splice variant NM_024740.2: c.1173+2T4A in the ALG9 gene causes rare lethal autosomal recessive Gillessen-Kaesbach-Nishimura skeletal dysplasia. Skipping of exon 10 leads to shorter RNA and results in an increase in monoglycosylated transferrin |
736049 |
| 2.4.1.261 | medicine |
in a patient with homozygous mutation in ALG9, c.860A > G, i.e. Y287C, prenatally, dysmorphic features, numerous renal cysts and minor cardiac malformations were detected. Postnatally, dysmorphic features include shallow orbits, micrognathia, hypoplastic nipples, talipes equinovarus, lipodystrophy and cutis marmorata |
759780 |
| 2.4.1.261 | medicine |
inactivation of Alg9 results in impaired maturation and defective glycosylation of polycystin-1. Seven of eight (88%) cases selected have at least four kidney cysts, compared with none in matched controls |
759415 |
| 2.4.1.261 | medicine |
patients with ALG9-congenital disorder of glycosylation present with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis, showing global atrophy with delayed myelination caused by homozygous mutation c.1075G>A, i.e. E359K |
759695 |
