Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1812-1817

  Nimmo, Graeme ^a   Monsonego, Sarah ^a   Descartes, Maria ^b   Franklin, Judith ^b   Steinberg, Steven ^c   Braverman, Nancy ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

GNPAT; Peroxisome disorder; Rhizomelic chondrodysplasia punctata; Uniparental disomy

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME 1; CLINICAL FEATURE; DINUCLEOTIDE REPEAT; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOME IMPRINTING; GENOTYPE; GNPAT GENE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; KARYOTYPE; MALE; PRIORITY JOURNAL; RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; COMPLICATION; FATHER; FEMALE; GENETICS; HAND MALFORMATION; LIMB MALFORMATION; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PREGNANCY; RADIOGRAPHY;

BASE SEQUENCE; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; FATHERS; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PREGNANCY; UNIPARENTAL DISOMY;

EID: 77954136428     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33489     Document Type: Article

References (38)

1. Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M, Roos JL, Gogos JA, Karayiorgou M. 2004. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. Am J Hum Genet 74:403-417.
2. Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT. 2006. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 66:798-803, discussion 789.
3. Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. "Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet 31:534-540. (Pubitemid 24226399)
4. Benko WS, Hruska KS, Nagan N, Goker-Alpan O, Hart PS, Schiffmann R, Sidransky E. 2008. Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. Neurology 70:976-978.
5. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. 1999. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet 22:291-294.
6. Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. 2002. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat 20:284-297.
7. Castori M, Floriddia G, Pisaneschi E, Covaciu C, Paradisi M, Torrente I, Castiglia D. 2008. Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. J Dermatol Sci 51:58-61.
8. Dacremont G, Cocquyt G, Vincent G. 1995. Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography. J Inherit Metab Dis 18:76-83.
9. Dimmick JE, Applegarth DA. 1993. Pathology of peroxisomal disorders. In: Landing BH, Haust MD, Bernstein J, Rosenberg HS, editors. Genetic metabolic diseases. Perspect Pediatr Pathol Basel Karger 17:45-98.
10. Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G. 1999. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. Eur J Hum Genet 7:633-637.
11. Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA. 2005. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 30:71-74.
12. Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet 63:1216-1220.
13. Fingert JH, Eliason DA, Phillips NC, Lotery AJ, Sheffield VC, Stone EM. 2006. Case of Stargardt disease caused by uniparental isodisomy. Arch Ophthalmol 124:744-745.
14. Fremeaux-Bacchi V, Sanlaville D, Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, Vekemans M, Fridman WH. 2007. Unusual clinical severity of complementmembrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. Am J Kidney Dis 49: 323-329.
15. Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. 1998. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 62:848-854.
16. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. 1994. The 1993-94 Genethon human genetic linkage map. Nat Genet 7:246-339. (Pubitemid 2086160)
17. Lebo RV, Shapiro LR, Fenerci EY, Hoover JM, Chuang JL, Chuang DT, Kronn DF. 2000. Rare etiology of autosomal recessive disease in a child with noncarrier parents. Am J Hum Genet 67:750-754.
18. Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y. 2000. Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. Hum Genet 107:205-209.
19. Miyoshi O, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T, Numakura C, Takahashi S, Hayasaka K, Niikawa N. 2001. Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1. Am J Med Genet Part A 104A:250-256.
20. Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E. 1999. Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet 21:142-144.
21. Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. 2008. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet Part A 146A:997-1008.
22. Ofman R, Lajmir S, Wanders RJ. 2001. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: Resolution of the genomic organization of the humangnpat gene and its use in the identification of novel mutations. Biochem Biophys Res Commun 281:754-760.
23. Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J. 1997. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 61:611-619. (Pubitemid 27418402)
24. Purvis-Smith SG, Saville T, Manass S, Yip MY, Lam-Po-Tang PR, Duffy B, Johnston H, Leigh D, McDonald B. 1992. Uniparental disomy 15 resulting from "correction" of initial trisomy 15. Am J Hum Genet 6:1348-1350.
25. Rivolta C, Berson EL, Dryja TP. 2002. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol 120:1566-1571. (Pubitemid 36406435)
26. Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A. 2001. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child. Am J Med Genet Part A 38A:885-888.
27. Schutgens RB, Romeyn GJ, Wanders RJ, van den Bosch H, Schrakamp G, Heymans HS. 1984. Deficiency of acyl-CoA:dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepatorenal) syndrome. Biochem Biophys Res Commun 120:179-184.
28. Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, Uitto J. 1998. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J Invest Dermatol 110:828-831.
29. Takizawa Y, Pulkkinen L, Chao SC, Nakajima H, Nakano Y, Shimizu H, Uitto J. 2000. Mutation report: Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 115:307-311.
30. Thai TP, Rodemer C, Jauch A, Hunziker A, Moser A, Gorgas K, Just WW. 2001. Impaired membrane traffic in defective ether lipid biosynthesis. Hum Mol Genet 10:127-136. (Pubitemid 32098122)
31. Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. 2002. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet 70:224-229.
32. Turner CL, Bunyan DJ, Thomas NS, Mackay DJ, Jones HP, Waterham HR, Wanders RJ, Temple IK. 2007. Zellweger syndrome resulting from maternal isodisomy of chromosome 1. Am J Med Genet Part A 143A:2172-2177.
33. Wanders RJ, Waterham HR. 2006. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 75:295-332.
34. Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y. 2010. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. Brain Dev 32:236-243.
35. Wassink TH, Losh M, Frantz RS, Vieland VJ, Goedken R, Piven J, Sheffield VC. 2005. A case of autism and uniparental disomy of chromosome 1. Hum Genet 117:200-206.
36. White AL, Modaff P, Holland-Morris F, Pauli RM. 2003. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet Part A 118A: 332-342. (Pubitemid 37069982)
37. Wirtenberger M, Hemminki K, Chen B, Burwinkel B. 2005. SNP microarray analysis for genome-wide detection of crossover regions. Hum Genet 117:389-397.
38. Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE. 2006. Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1. Am J Med Genet Part A 140A:1004-1009.