A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 17-28

  Swoboda, Kathryn J ^a   Margraf, Rebecca L ^b   Carey, John C ^a   Zhou, Holly ^a   Newcomb, Tara M ^a   Coonrod, Emily ^b   Durtschi, Jacob ^b   Mallempati, Kalyan ^b   Kumanovics, Attila ^a,b   Katz, Ben E ^c   Voelkerding, Karl V ^a,b   Opitz, John M ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c Private Practice of Pediatrics and Pediatric Neurology   (United States)

Author keywords

Cerebellar atrophy; Encephalopathy; Epilepsy; Exome; Ferro Cerebro Cutaneous syndrome; Hemochromatosis; Iron; Microcephaly; Neurodegeneration; PIG A protein; PIGA; Recessive; Seizures; Sequencing; X linked

Indexed keywords

CORTICOSTEROID; GPI ANCHOR PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; PHOSPHATIDYLINOSITOL GLYCAN-CLASS A PROTEIN;

ALLELE; ARTICLE; ASPIRATION PNEUMONIA; AUTOPSY; BLINDNESS; CHILD; DISEASE SEVERITY; ELECTRON MICROSCOPY; EPILEPSY; EPILEPTIC STATE; EXON; EYE MOVEMENT DISORDER; FEMALE; FERRO CEREBRO CUTANEOUS SYNDROME; FOOT MALFORMATION; GASTROSTOMY; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; GLIOSIS; HAPLOTYPE; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEPATOSPLENOMEGALY; HUMAN; INFANT; IRON OVERLOAD; LIVER CIRRHOSIS; LIVER FAILURE; MALE; MICROCEPHALY; MUSCLE ATROPHY; MUSCLE CONTRACTURE; MUSCLE HYPOTONIA; MUTATOR GENE; NEUROLOGIC DISEASE; OBESITY; PHENOTYPE; PIGA GENE; PLEIOTROPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR DISORDER; SEQUENCE ALIGNMENT; THROMBOCYTOPENIA; TOOTH DISEASE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BIOPSY; BRAIN; CASE REPORT; CHEMISTRY; DNA MUTATIONAL ANALYSIS; FACIES; FATALITY; GENETIC DISEASES, X-LINKED; GENETICS; GERMLINE MUTATION; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; KIDNEY; LIVER; LYMPHOCYTE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SKIN; SPASMS, INFANTILE; SPLEEN; SYNDROME; ULTRASTRUCTURE; X CHROMOSOMAL INHERITANCE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUTOPSY; BASE SEQUENCE; BIOPSY; BRAIN; DNA MUTATIONAL ANALYSIS; FACIES; FATAL OUTCOME; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GERM-LINE MUTATION; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; IRON OVERLOAD; KIDNEY; LIVER; LYMPHOCYTES; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE ALIGNMENT; SKIN; SPASMS, INFANTILE; SPLEEN; SYNDROME;

EID: 84890658088     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36189     Document Type: Article

References (26)

1. Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A. 2006. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med 12:846-851.
2. Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A. 2007. Targeted therapy for inherited GPI deficiency. N Engl J Med 356:1641-1647.
3. Collardeau-Frachon S, Heissat S, Bouvier R, Fabre M, Baruteau J, Broue P, Cordier MP, Debray D, Debiec H, Ronco P, Guigonis V. 2012. A French retrospective multicentric study of neonatal hemochromatosis: Importance of autopsy and of auto-immune maternal manifestations. Pediatr Dev Pathol 15:450-470.
4. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498.
5. González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA. 2006. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol 63:107-111.
6. Hara-Chikuma M, Takeda J, Tarutani M, Uchida Y, Holleran WM, Endo Y, Elias PM, Inoue S. 2004. Epidermal-specific defect of GPI anchor in PIG-A null mice results in harlequin ichthyosis-like features. J Invest Dermatol 123:464-469.
7. Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P. 2011. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum. Am J Med Genet Part A 155A:1917-1922.
8. Jaeken J. 2011. Congenital disorders of glycosylation (CDG): It's (nearly) all in it! J Inherit Metab Dis 34:853-858.
9. Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG. 2012. The phenotype of a germline mutation in PIGA: The gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet 90:295-300.
10. Keller P, Tremml G, Rosti V, Bessler M. 1999. X inactivation and somatic cell selection rescue female mice carrying a PIGA-null mutation. Proc Natl Acad Sci USA 96:7479-7483.
11. Kinoshita T, Ohishi K, Takeda J. 1997. GPI-anchor synthesis in mammalian cells: Genes, their products, and a deficiency. J Biochem 122:251-257.
12. Kinoshita T, Fujita M, Maeda Y. 2008. Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: Recent progress. J Biochem 144:287-294.
13. Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Kohler S, Jager M, Grunhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. 2010. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 42:827-829.
14. Krawitz PM, Murakami Y, RieB A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. 2013. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. AJHG 92:584-589.
15. Labasque M, Faivre-Sarrailh C. 2009. GPI-anchored proteins at the node of ranvier. FEBS Lett 584:1787-1792.
16. Leyvraz C, Charles RP, Rubera I, Guitard M, Rotman S, Breiden B, Sandhoff K, Hummler E. 2005. The epidermal barrier function is dependent on the serine protease CAP1/PRSS8. J Cell Biol 170:487-496.
17. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A. 2004. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: Clinical and molecular genetic study. Lancet 364:875-882.
18. Mabry CC, Bautista A, Kirk RF, Dubilier LD, Braunstein H, Koepke JA. 1970. Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. J Pediatr 77:74-85.
19. Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L. 2011. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet 48:383-389.
20. Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Williams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. 2012. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 90:685-688.
21. Santos PC, Krieger JE, Pereira AC. 2012. Molecular diagnostic and pathogenesis of hereditary hemochromatosis. Int J Mol Sci 13:1497-1511.
22. Silvestri L, Pagani A, Fazi C, Gerardi G, Levi S, Arosio P, Camaschella C. 2007. Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. Blood 109:4503-4510.
23. Tarutani M, Itami S, Okabe M, Ikawa M, Tezuka T, Yoshikawa K, Kinoshita T, Takeda J. 1997. Tissue-specific knockout of the mouse PIG-A gene reveals important roles for GPI-anchored proteins in skin development. Proc Natl Acad Sci USA 94:7400-7405.
24. The 1000 genomes project consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
25. Ware RE, Rosse WF, Howard TA. 1994. Mutations within the PIGA gene in patients with paroxysmal nocturnal hemoglobinuria. Blood 83:2418-2422.
26. Zhang AS. 2011. Control of systemic iron homeostasis by the hemojuvelin-hepcidin axis. Adv Nutr 1:38-45.