A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

European Journal of Human Genetics

Volumn 24, Issue 2, 2016, Pages 198-207

  Tham, Emma ^a,b   Eklund, Erik A ^c   Hammarsjö, Anna ^a,b   Bengtson, Per ^d   Geiberger, Stefan ^b   Lagerstedt Robinson, Kristina ^a,b   Malmgren, Helena ^a,b   Nilsson, Daniel ^a,b   Grigelionis, Gintautas ^a   Conner, Peter ^a,b   Lindgren, Peter ^a,b   Lindstrand, Anna ^a,b   Wedell, Anna ^a,b   Albåge, Margareta ^b   Zielinska, Katarzyna ^c   Nordgren, Ann ^a,b   Papadogiannakis, Nikos ^b   Nishimura, Gen ^e   Grigelioniene, Giedre ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c LUND UNIVERSITY   (Sweden)

^d Lund University   (Sweden)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1,2 MANNOSYLTRANSFERASE; MANNOSYLTRANSFERASE; TRANSFERRIN; UNCLASSIFIED DRUG; ALG9 PROTEIN, HUMAN; ISOPROTEIN; MEMBRANE PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; EXON; FEMALE; FETUS; GENE MAPPING; GENETIC VARIABILITY; GESTATIONAL AGE; GILLESSEN KAESBACH NISHIMURA SYNDROME; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; KIDNEY CYST; LIQUID CHROMATOGRAPHY; MALE; MALFORMATION SYNDROME; MASS SPECTROMETRY; MUSCLE HYPOTONIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RNA ANALYSIS; TRANSFERRIN BLOOD LEVEL; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHONDRODYSPLASIA; EXOME; GENETICS; GLYCOSYLATION; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NERVE DEGENERATION; PATHOLOGY; PATHOPHYSIOLOGY; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FEMALE; GLYCOSYLATION; HUMANS; MALE; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MUTATION, MISSENSE; NERVE DEGENERATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, RNA;

EID: 84954383111     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.91     Document Type: Article

References (22)

1. Gillessen-Kaesbach G, Meinecke P, Garrett C et al: New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet 1993; 45: 511-518.
2. Nishimura G, Nakayama M, Fuke Y et al: A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. Pediatr Radiol 1998; 28: 43-47.
3. Jaeken J: Congenital disorders of glycosylation (CDG): it's (nearly) all in it!. J Inherit Metab Dis 2011; 34: 853-858.
4. Freeze HH, Eklund EA, Ng BG et al: Neurology of inherited glycosylation disorders. Lancet Neurol 2012; 11: 453-466.
5. Coman D, Irving M, Kannu P et al: The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet 2008; 73: 507-515.
6. Murali C, Lu JT, Jain M et al: Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep 2014; 1: 213-219.
7. Kranz C, Basinger AA, Gucsavas-Calikoglu M et al: Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A 2007; 143A: 1371-1378.
8. Frank CG, Grubenmann CE, Eyaid W et al: Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 2004; 75: 146-150.
9. Freeze HH, Chong JX, Bamshad MJ et al: Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 2014; 94: 161-175.
10. Weinstein M, Schollen E, Matthijs G et al: CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A 2005; 136: 194-197.
11. Vleugels W, Keldermans L, Jaeken J et al: Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. Glycobiology 2009; 19: 910-917.
12. Sun L, Eklund EA, Chung WK et al: Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab 2005; 90: 4371-4375.
13. Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760.
14. DePristo MA, Banks E, Poplin R et al: A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011; 43: 491-498.
15. Lacey JM, Bergen HR, Magera MJ et al: Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clin Chem 2001; 47: 513-518.
16. Iqbal Z, Vandeweyer G, van der Voet M et al: Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet 2013; 22: 1960-1970.
17. Oriol R, Martinez-Duncker I, Chantret I et al: Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate. Mol Biol Evol 2002; 19: 1451-1463.
18. van Rooijen JJ, Jeschke U, Kamerling JP et al: Expression of N-linked sialyl Le(x) determinants and O-glycans in the carbohydrate moiety of human amniotic fluid transferrin during pregnancy. Glycobiology 1998; 8: 1053-1064.
19. Stanley P, Schachter H, Taniguchi N: Essentials of Glycobiology. NY, USA: Cold Spring Harbor Laboratory Press, 2009.
20. Zielinska DF, Gnad F, Wisniewski JR et al: Precision mapping of an in vivo N-glycoproteome reveals rigid topological and sequence constraints. Cell 2010; 141: 897-907.
21. Niklasson A, Albertsson-Wikland K: Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr 2008; 8: 8.
22. Voigt M, Fusch C, Olbertz D et al: Analyse des neugeborenenkollektivs der bundesrepublik deutschland. Geburtsh Frauenheilk 2006; 66: 956-970.