Novel PHKG2 mutation causing GSD IX with prominent liver disease: Report of three cases and review of literature

European Journal of Pediatrics

Volumn 173, Issue 5, 2014, Pages 647-653

  Albash, Buthainah ^b   Imtiaz, Faiqa ^a   Al Zaidan, Hamad ^a   Al Manea, Hadeel ^a   Banemai, Mohammed ^a   Allam, R ^a   Al Suheel, Ali ^c   Al Owain, Mohammed ^a,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Kuwait Medical Genetics Centre   (Kuwait)

^c KING KHALID UNIVERSITY   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Cirrhosis; Glycogen storage disease type IX; PHKG2; Phosphorylase kinase

Indexed keywords

PHOSPHORYLASE KINASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; DISEASE SEVERITY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 9; HOMOZYGOSITY; HUMAN; INFANT; LIVER CIRRHOSIS; LIVER FIBROSIS; PHENOTYPE; PHKG2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; GENETICS; GENOTYPE; LIVER DISEASE; MALE; MUTATION; POLYMERASE CHAIN REACTION; SAUDI ARABIA;

FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; LIVER DISEASES; MALE; MUTATION; PHENOTYPE; PHOSPHORYLASE KINASE; POLYMERASE CHAIN REACTION; SAUDI ARABIA;

EID: 84900825652     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-2223-0     Document Type: Article

References (17)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249
2. Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H,Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M (2007) Glycogen storage disease type IX: high variability in clinical phenotype. Mol Genet Metab 92:88-99
3. Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW (1998) Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet 102:423-429
4. Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW (2003) Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Pediatr Res 54:834-839
5. Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW (1998) Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet 7:149-154
6. Burwinkel B, Tanner MS, Kilimann MW (2000) Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). J Med Genet 37:376-377
7. Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C (2011) Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab 104:137-143
8. Goldstein J, Austin S, Kishnani P, Bali D (1993) Phosphorylase kinase deficiency. GeneReviews at gene tests: medical genetics information resource. http://www.genetests.org. Accessed Feb 27, 2012
9. Hendrickx J, Lee P, Keating JP, Carton D, Sardharwalla IB, Tuchman M, Baussan C, Willems PJ (1999) Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. Am J Hum Genet 64:1541-1549
10. Johnson AO, Goldstein JL, Bali D (2012) Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. J Pediatr Gastroenterol Nutr 55:90-92
11. Kagalwalla AF, Kagalwalla YA, al Ajaji S, Gorka W, Ali MA (1995) Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. J Pediatr 127:602-605
12. Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW (1996) Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet 14:337-340
13. Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP (2005) Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. J Inherit Metab Dis 28:703-706
14. Shiomi S, Saeki Y, Kim K, Nishiguchi S, Seki S, Kuroki T, Kobayashi K, Harihara S, Owada M (1989) A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor. Gastroenterol Jpn 24:711-714
15. Sovik O, deBarsy T, Maehle B (1982) Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. Eur J Pediatr 139:210
16. van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE (1997) Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). Biochem Biophys Res Commun 236:544-548
17. Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. (2006) Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 78:889-896