A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with west syndrome and pyruvate oxidation deficiency

Neuropediatrics

Volumn 43, Issue 3, 2012, Pages 130-134

  Mayr, Johannes A ^a   Koch, Johannes ^a   Fauth, Christine ^b   Zimmermann, Franz A ^a   Rauscher, Christian ^a   Zschocke, Johannes ^b   Sperl, Wolfgang ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

CDKL5; Epilepsy; Mitochondrial disease; Pyruvate dehydrogenase complex deficiency; X inactivation

Indexed keywords

ALANINE; CYCLIN DEPENDENT KINASE 5; CYCLIN DEPENDENT KINASE LIKE 5; LACTIC ACID; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE ALPHA 1; PYRUVATE DEHYDROGENASE COMPLEX; UNCLASSIFIED DRUG; VIGABATRIN;

ARTICLE; BASE PAIRING; BIRTH WEIGHT; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME DELETION X; CORPUS CALLOSUM AGENESIS; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERLACTATEMIA; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; KETOGENIC DIET; MICROCEPHALY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OXIDATION; PLAGIOCEPHALY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; QUANTITATIVE ANALYSIS; SEIZURE; VOMITING; WEST SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; INFANT; PROTEIN-SERINE-THREONINE KINASES; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SPASMS, INFANTILE;

EID: 84862752945     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0032-1309308     Document Type: Article

References (18)

1. Lissens W, De Meirleir L, Seneca S, et al. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 2000;15(3):209-219
2. Quintana E, Gort L, Busquets C, et al. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. Clin Genet 2010;77(5):474-482
3. Strassburg HM, Koch J, Mayr J, Sperl W, Boltshauser E. Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex. Neuropediatrics 2006;37(3):137-141
4. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008;131(Pt 10):2647-2661
5. Liang JS, Shimojima K, Takayama R, et al. CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 2011;52(10):1835-1842
6. Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004;75(6):1079-1093
7. Mayr JA, Bodamer O, Haack TB, et al. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol Genet Metab 2011;103(4):358-361
8. Berger A, Mayr JA, Meierhofer D, et al. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol 2003;105(3):245-251
9. Mayr JA, Merkel O, Kohlwein SD, et al. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 2007;80(3):478-484
10. Sperl W, Trijbels JM, Ruitenbeek W, et al. Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay. Enzyme Protein 1993;47(1):37-46
11. Brown RM, Brown GK. X chromosome inactivation and the diagnosis of X linked disease in females. J Med Genet 1993;30(3):177-184
12. Okajima K, Warman ML, Byrne LC, Kerr DS. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype. Mol Genet Metab 2006;87(2):162-168
13. Ridout CK, Brown RM, Walter JH, Brown GK. Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency. Hum Genet 2008;124(2):187-193
14. Brivet M, Moutard ML, Zater M, et al. First characterization of a large deletion of the PDHA 1 gene. Mol Genet Metab 2005;86(4):456-461
15. Singer BH, Iyer RK, Kerr DS, Ahmad A. Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis. Mol Genet Metab 2010;101(1):87-89
16. Mei D, Marini C, Novara F, et al. Xp22.3 Genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2009;51(7):647-654
17. Hendrickx J, Lee P, Keating JP, et al. Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. Am J Hum Genet 1999;64(6):1541-1549
18. Consortium TR; The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet 1998;7(7):1185-1192