Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

Del Bigio, 1997, Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome, J Neuropathol Exp Neurol, 56, 1147, 10.1097/00005072-199710000-00009 Hamel, 1996, Xeroderma pigmentosum-Cockayne syndrome complex: a further case, J Med Genet, 33, 607, 10.1136/jmg.33.7.607 Harbord, 1989, Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome, J Med Genet, 26, 397, 10.1136/jmg.26.6.397 Hennekam, 1988, Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance, Eur J Pediatr, 147, 539, 10.1007/BF00441986 Lehmann, 2001, The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases, Genes Dev, 15, 15, 10.1101/gad.859501 Lerman-Sagie, 1987, Brief clinical report: syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes, Am J Med Genet, 28, 137, 10.1002/ajmg.1320280120 Linna, 1982, Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome, Pediatr Radiol, 12, 28, 10.1007/BF01221707 Liu, 1995, Restriction enzyme fingerprinting (REF): a sensitive method for screening mutations in long contiguous segments of DNA, Biotechniques, 18, 470 Lowry, 1982, Invited editorial comment: early onset of Cockayne syndrome, Am J Med Genet, 13, 209, 10.1002/ajmg.1320130211 Lowry, 1971, Cataracts, microcephaly, kyphosis and limited joint movement in two siblings: a new syndrome, J Pediatr, 79, 282, 10.1016/S0022-3476(71)80114-2 Lurie, 1976, Further evidence for the autosomal-recessive inheritance of the COFS syndrome, Clin Genet, 10, 343, 10.1111/j.1399-0004.1976.tb00059.x Martsolf, 1978, Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers, Am J Med Genet, 1, 291, 10.1002/ajmg.1320010305 Meira, 2000, Manitoba aboriginal kindred with original Cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene, Am J Hum Genet, 66, 1221, 10.1086/302867 Moriwaki, 1996, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells, J Invest Dermatol, 107, 647, 10.1111/1523-1747.ep12584287 Nance, 1992, Cockayne syndrome: review of 140 cases, Am J Med Genet, 42, 68, 10.1002/ajmg.1320420115 Nassogne, 2000, Polymicrogyria and motor neuropathy in Micro syndrome, Neuropediatrics, 31, 218, 10.1055/s-2000-7463 Nouspikel, 1997, A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function, Proc Natl Acad Sci USA, 94, 3116, 10.1073/pnas.94.7.3116 Patton, 1989, Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies, J Med Genet, 26, 154, 10.1136/jmg.26.3.154 Pena, 1978, COFS syndrome revisited, Birth Defects, 14, 205 Pena, 1974, Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome, Clin Genet, 5, 285, 10.1111/j.1399-0004.1974.tb01695.x Powell, 2000, Mutation in the CSB gene in a patient with cerebro-oculo-facio-skeletal syndrome, Genet Med, 2, 85, 10.1097/00125817-200001000-00121 Preus, 1974, The cerebro-oculo-facio-skeletal syndrome, Clin Genet, 5, 294, 10.1111/j.1399-0004.1974.tb01696.x Sakai, 1997, Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome, Brain Dev, 19, 58, 10.1016/S0387-7604(96)00057-5 Sánchez, 1985, Two brothers with Martsolf's syndrome, J Med Genet, 22, 308, 10.1136/jmg.22.4.308 Scott-Emuakpor, 1977, A syndrome of microcephaly and cataracts in four siblings: a new genetic syndrome?, Am J Dis Child, 131, 167, 10.1001/archpedi.1977.02120150049010 Sigmundsson, 1998, A case of xeroderma pigmentosum-Cockayne syndrome complex due to a mutation in the repair endonuclease XPG, Am J Hum Genet Suppl, 63, A120 Sijbers, 1998, Homozygous R788W point mutation in the XPF gene of a xeroderma patient with late-onset neurological disease, J Invest Dermatol, 110, 832, 10.1046/j.1523-1747.1998.00171.x Strisciuglio, 1988, Martsolf's syndrome in a non-Jewish boy, J Med Genet, 25, 267, 10.1136/jmg.25.4.267 Talwar, 1989, CAMFAK syndrome: A demyelinating inherited disease similar to Cockayne syndrome, Am J Med Genet, 34, 194, 10.1002/ajmg.1320340212 Van den Berg, 1999, Amniocentesis or chorionic villus sampling in multiple gestations. Experience with 500 cases, Prenat Diagn, 19, 234, 10.1002/(SICI)1097-0223(199903)19:3<234::AID-PD516>3.0.CO;2-7 Vermeulen, 1993, Xeroderma pigmentosum complementation group G associated with Cockayne syndrome, Am J Hum Genet, 53, 185 Vermeulen, 2001, A temperature-sensitive disorder in basal transcription and DNA repair in humans, Nat Genet, 27, 299, 10.1038/85864 Warburg, 1993, Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: MICRO syndrome, Am J Dis Child, 147, 1309, 10.1001/archpedi.1993.02160360051017 Winter, 1981, Syndrome of microcephaly, microphthalmia, cataracts and joint contractures, J Med Genet, 18, 129, 10.1136/jmg.18.2.129