ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 203-212

  Bahena Bahena, D ^a   Lopez Valdez J ^b   Raymond, K ^c   Salinas Marin R ^a   Ortega Garcia A ^a   Ng, B G ^d   Freeze, H H ^d   Ruiz Garcia M ^e   Martinez Duncker I ^a  

^a UNIVERSIDAD AUTÓNOMA DEL ESTADO DE MORELOS   (Mexico)

^b Hospital Miguel Hidalgo   (Mexico)

^c Mayo Clinic   (United States)

^d BURNHAM INSTITUTE   (United States)

^e INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

ARCL; ATP6V0A2; CDG; Glycosylation; Hispanic; Laxa

Indexed keywords

APOLIPOPROTEIN C3; COMPLEMENTARY DNA; GENOMIC DNA; TRANSFERRIN;

ANTERIOR FONTANEL; ANTEVERTED NOSTRIL; ARTICLE; ASTHMA; ATP6V0A2 GENE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CHOROID PLEXUS; CLINODACTYLY; CONSANGUINEOUS MARRIAGE; CORPUS CALLOSUM; CORRELATION ANALYSIS; CRYPTORCHISM; CUTIS LAXA; CUTIS LAXA SYNDROME TYPE IIA; EPICANTHUS; EXON; FAILURE TO THRIVE; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GENE; GENE MUTATION; GLYCOSYLATION; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HYPERTELORISM; HYPERURICEMIA; INFANT; INGUINAL HERNIA; IRON DEFICIENCY ANEMIA; KARYOTYPE; LONG PHILTRUM; LUNG ARTERY BANDING; MALE; MESTIZO; MEXICAN AMERICAN; MICROCEPHALY; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; NASOLABIAL FOLD; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PNEUMONIA; PRESCHOOL CHILD; PROTEIN GLYCOSYLATION; PYELONEPHRITIS; RECURRENT INFECTION; RETROGNATHIA; SIGNAL TRANSDUCTION; STOP CODON; TRANSFERRIN BLOOD LEVEL; URINARY TRACT INFECTION; ALTERNATIVE RNA SPLICING; BODY HEIGHT; CARDIOVASCULAR MALFORMATION; DEVELOPMENTAL DISORDER; FACIES; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HYPOPLASIA; KARYOTYPE 46,XY; LOW BIRTH WEIGHT; MASS SPECTROMETRY; MEXICAN; NERVOUS SYSTEM MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; RNA PROCESSING; SEIZURE; SKIN BIOPSY; SKINFOLD; SMALL FOR DATE INFANT;

EID: 84905193394     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2014.04.003     Document Type: Article

References (13)

1. +-ATPase subunit ATP6V0A2 Nat. Genet. 40 1 2008 32 34
2. B. Fischer et al. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa Hum. Genet. 131 11 2012 1761 1773
3. M. Mohamed et al. Metabolic cutis laxa syndromes J. Inherit. Metab. Dis. 34 4 2011 907 916
4. +-ATPase meets glycosylation in patients with cutis laxa Biochim. Biophys. Acta 1792 9 2009 903 914
5. J. Jaeken et al. CDG nomenclature: time for a change! Biochim. Biophys. Acta 1792 9 2009 825 826
6. C. Rosnoblet et al. Glycosylation disorders of membrane trafficking Glycoconj. J. 30 1 2013 23 31
7. V. Hucthagowder et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival Hum. Mol. Genet. 18 12 2009 2149 2165
8. A. Rivinoja et al. Elevated Golgi pH impairs terminal N-glycosylation by inducing mislocalization of Golgi glycosyltransferases J. Cell. Physiol. 220 1 2009 144 154
9. R. Niehues et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy J. Clin. Invest. 101 7 1998 1414 1420 (Pubitemid 28166839)
10. D.R. Berk et al. Cutis laxa: a review J. Am. Acad. Dermatol. 66 5 2012 842 (e1-17)
11. J. Jaeken Congenital disorders of glycosylation Ann. N. Y. Acad. Sci. 1214 2010 190 198
12. E. Morava et al. Defective protein glycosylation in patients with cutis laxa syndrome Eur. J. Hum. Genet. 13 4 2005 414 421 (Pubitemid 40520931)
13. X. Wu et al. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder Nat. Med. 10 5 2004 518 523 (Pubitemid 38667911)