Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies

Teratology

Volumn 61, Issue 3, 2000, Pages 165-171

  Nye, Jeffrey S ^a,d   Hayes, Erin A ^a   Amendola, Michael ^b   Vaughn, Daleik ^b   Charrow, Joel ^a   McLone, David G ^a   Speer, Marcy C ^c   Nance, Walter E ^b   Pandya, Arti ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE; MITOCHONDRIAL RNA;

ADULT; ARNOLD CHIARI MALFORMATION; ARTICLE; CLOACA; CYSTOCELE; DEVELOPMENT; FAMILY STUDY; FEMALE; FINGER MALFORMATION; GENE MUTATION; HAIR COLOR; HEARING LOSS; HUMAN; HUMAN TISSUE; LEUKODERMA; MAJOR CLINICAL STUDY; MALE; NEURAL CREST; NEURAL TUBE DEFECT; OMPHALOCELE; ONSET AGE; PEDIGREE ANALYSIS; PIGMENT DISORDER; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SPINA BIFIDA; SPINE MALFORMATION; TELECANTHUS; UNITED STATES; VERTEBRA; VERTEBRA MALFORMATION; WAARDENBURG SYNDROME;

AMINOGLYCOSIDES; CHILD; CLOACA; DEAFNESS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MENINGOMYELOCELE; MUTATION; PEDIGREE; PIGMENTATION DISORDERS; RNA, RIBOSOMAL; SPINAL DYSRAPHISM;

ENTEROBACTER;

EID: 0034056709     PISSN: 00403709     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-9926(200003)61:3<165::AID-TERA3>3.0.CO;2-E     Document Type: Article

References (28)

1. Anonymous. 1991. Prevention of neural tube defects: results of the medical research council vitamin study. MRC Vitamin Study Research Group. Lancet 338: 131-137.
2. Arias S, Mota M. 1978. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum. J Genetique Humaine 26:103-131.
3. Braverman I, Jaber L, Levi H, Adelman C, Arons KS, Fischel-Ghodsian N, Shohat M, Elidan J. 1996. Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Arch Otolaryngol Head Neck Surg 12: 1001-1004.
4. Bykhovskaya Y, Shohat M, Ehrenman K, Johnson D, Hamon M, Cantor RM, Aouizerat B, Bu X, Rotter JI, Jaber L, Fischel-Ghodsian N. 1998. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation. Am J Med Genet 77: 421-426.
5. Carvalho MR, Muller B, Rotzer E, Berninger T, Kommerell G, Blankenagel A, Savontaus ML, Meitinger T, Lorenz B. 1992. Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7. Hum Hered 42: 316-320.
6. el-Schahawi M, Lopez de Munain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, DiMauro S. 1997. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy. Neurology 48:453-456.
7. Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M, Torroni A. 1998. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides [see comments]. Am J Hum Genet 62:27-35.
8. Fairer LA, Arnos KS, Asher JH, Jr, Baldwin CT, Diehl SR, Friedman TB, Greenberg J, Grundfast KM, Hoth C, Lalwani AK, Landa B, Leverton K, Milunsky A, Morell R, Nance WE, Newton V, Ramesar R, Rao VS, Reynolds JE, SanAgustin TB, Wilcox ER, Winship I, Read AP 1994. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55:728-737.
9. Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. 1993. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol 14:399-403.
10. Fischel-Ghodsian N, Prezant TR, Chaltraw WE, Wendt KA, Nelson RA, Arnos KS, Falk RE. 1997. Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 18:173-178.
11. Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, Greenberg J, Beighton P. 1997. Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. J Med Genet 34:904-906.
12. Guan MX, Fischel-Ghodsian N, Attardi G. 1996. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Molec Genet 5:963-971.
13. Hamasaki K, Rando RR. 1997. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry 36:12323-12328.
14. Hutchin T, Haworth I, Higashi K, Fischel-Ghodsian N, Stoneking M, Saha N, Arnos C, Cortopassi G. 1993. A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res 21: 4174-4179.
15. Liu X Z, Newton VE, Read AP. 1995. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet 55: 95-100.
16. McLaughlin JF, Marks WM, Jones G. 1984. Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins. Am J Med Genet 19:721-727.
17. Nance WE. 1969. Anencephaly and spina bifida: a possible example of cytoplasmic inheritance in man. Nature 224:373-375.
18. Nye JS, Balkin N, Lucas H, Knepper PA, McLone DG, Charrow J. 1998. Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. Am J Med Genet 75:401-408.
19. Nye JS, McLone DG, Charrow J, Hayes EA. 1999. Neural crest anomaly syndromes in children with myelodysplasia. Teratology 60: 179-189.
20. Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE. 1997. Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 34:169-172.
21. Pandya A, Xia XJ, Landa BL, Arnos KS, Israel J, Lloyd J, James AL, Diehl SR, Blanton SH, Nance WE. 1996. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? Hum Molec Genet 5: 497-502.
22. Poznanski AK, Garn SM, Nagy JM, Gall JC Jr. 1972. Metacarpophalan-geal pattern profiles in the evaluation of skeletal malformations. Radiology 104:1-11.
23. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N. 1993. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 4: 289-294.
24. Procaccini DJ, Doyle CM. 1970. Streptomycin induced teratogenesis in developing and regenerating amphibians. Oncology 24:378-387.
25. Schinzel AA, Smith DW, Miller JR. 1979. Monozygotic twinning and structural defects. J Pediatr 95:921-930.
26. Shurtleff D, Ansell J, Hayden P, McLaughlin J. 1986. Exstrophy lesions. In: Shurtleff DB, editor. Myelodysplasias and extrophies. London: Grune and Stratton. p 181-199.
27. Wallace DC. 1987. Maternal genes: mitochondrial diseases. Birth Defects 23:137-190.
28. Weaver KB, Matthews H, Chegini S, King H, Shurtleff DB, McLaughlin JF. 1997. Vertebral column and spinal cord malformation in children with exstrophy of the cloaca, with emphasis on their functional correlates. Teratology 55:241-248.