Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

Clinical Genetics

Volumn 80, Issue 2, 2011, Pages 199-201

  Ceballos Picot, I ^a,b,c   Guest, G ^a   Moriniere, V ^a,d   Mockel, L ^a   Daudon, M ^a   Malan, V ^a   Antignac, C ^a,b,d   Heidet, L ^a,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c AP HP   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; ALLOPURINOL;

ACUTE PYELONEPHRITIS; ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 16; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ECHOGENIC BOWEL; ENZYME ACTIVITY; EXON; EXTRACORPOREAL LITHOTRIPSY; FEMALE; FETUS ECHOGRAPHY; GENE MAPPING; GENE SEQUENCE; GENOTYPE; HEART VENTRICLE SEPTUM DEFECT; HEMATURIA; HUMAN; HYDRATION; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; LETTER; MATERNAL UNIPARENTAL DISOMY; NEPHROLITHIASIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RENOGRAPHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STONE ANALYSIS; UNIPARENTAL DISOMY;

ADENINE PHOSPHORIBOSYLTRANSFERASE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; PEDIGREE; UNIPARENTAL DISOMY; UROLITHIASIS;

EID: 79960235842     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01626.x     Document Type: Letter

References (7)

1. Bollée G, Dollinger C, Boutaud L et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol 2010: 21: 679-688.
2. Sahota AS, Tishfield JA, Kamatani N, Simmonds HA. Adenine phosphoribosyltransferase deficiency and 2, 8-DHA urolithiasis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th edn. New York: McGraw-Hill Division, 2001: 2571-2584.
3. Broderick TP, Schaff DA, Bertino AM, Dush MK, Tischfield JA, Stambrook PJ. Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. Proc Natl Acad Sci U S A 1987: 84: 3349-3353.
4. Schneider AS, Bischoff FZ, McCaskill C, Coady ML, Stopfer JE, Shaffer LG. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet 1996: 11: 204-208.
5. Malvagia S, Papi L, Morrone A et al. Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Ann Hum Genet 2007: 71: 705-712.
6. Moradkhani K, Puechberty J, Blanchet P et al. Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms. Prenat Diagn 2006: 26: 1179-1182.
7. Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet 2003: 40: 175-182.