Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  Zhang, Huiwen ^a   Gao, Jialin ^a   Ye, Jun ^a   Gong, Zhuwen ^a   Gu, Xuefan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Cockayne syndrome; ERCC6 gene; Microdeletion; Mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; ERCC6 PROTEIN; PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BABINSKI REFLEX; CALCIFICATION; CHILD; CHINESE; CHROMOSOME BREAKAGE; COCKAYNE SYNDROME; DNA DETERMINATION; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENOME ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XX; LANGUAGE DEVELOPMENT; NONSENSE MUTATION; PRESCHOOL CHILD; SPASTICITY; SUNBURN;

BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 10; COCKAYNE SYNDROME; DNA HELICASES; DNA REPAIR ENZYMES; FEMALE; GENE DELETION; GENOTYPE; HUMANS; INFANT; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79960103738     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.03.012     Document Type: Article

References (14)

1. Cleaver J.E., Lam E.T., Revet I. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity. Nat. Rev. Genet. 2009, 10:756-768.
2. Venema J., Mullenders L.H., Natarajan A.T., van Zeeland A.A., Mayne L.V. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc. Natl. Acad. Sci. U.S.A. 1990, 87:4707-4711.
3. Laugel V., Dalloz C., Durand M., Sauvanaud F., Kristensen U., Vincent M.C., Pasquier L., Odent S., Cormier-Daire V., Gener B., Tobias E.S., Tolmie J.L., Martin-Coignard D., Drouin-Garraud V., Heron D., Journel H., Raffo E., Vigneron J., Lyonnet S., Murday V., Gubser-Mercati D., Funalot B., Brueton L., Sanchez Del Pozo J., Munoz E., Gennery A.R., Salih M., Noruzinia M., Prescott K., Ramos L., Stark Z., Fieggen K., Chabrol B., Sarda P., Edery P., Bloch-Zupan A., Fawcett H., Pham D., Egly J.M., Lehmann A.R., Sarasin A., Dollfus H. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum. Mutat. 2010, 31:113-126.
4. Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 1995, 82:555-564.
5. Jaeken J., Klocker H., Schwaiger H., Bellmann R., Hirsch-Kauffmann M., Schweiger M. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum. Genet. 1989, 83:339-346.
6. Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D., Hoeijmakers J.H. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992, 71:939-953.
7. Nance M.A., Berry S.A. Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 1992, 42:68-84.
8. Rapin I., Weidenheim K., Lindenbaum Y., Rosenbaum P., Merchant S.N., Krishna S., Dickson D.W. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J. Child Neurol. 2006, 21:991-1006.
9. Laugel V., Dalloz C., Stary A., Cormier-Daire V., Desguerre I., Renouil M., Fourmaintraux A., Velez-Cruz R., Egly J.M., Sarasin A., Dollfus H. Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur. J. Hum. Genet. 2008, 16:320-327.
10. Zhang H., Wang Y., Han L., Gu X., Shi D. A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. Horm. Res. Paediatr. 2010, 74:98-105.
11. Pfaffl M.W., Horgan G.W., Dempfle L. Relative expression software tool (REST) for group-wise comparison and statistical analysis of relative expression results in real-time PCR. Nucleic Acids Res. 2002, 30:e36.
12. Newman J.C., Bailey A.D., Fan H.Y., Pavelitz T., Weiner A.M. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. PLoS Genet. 2008, 4:e1000031.
13. Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G., Kurimasa A., Oshimura M., Ichihashi M., Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:15410-15415.
14. Miyake N., Kurotaki N., Sugawara H., Shimokawa O., Harada N., Kondoh T., Tsukahara M., Ishikiriyama S., Sonoda T., Miyoshi Y., Sakazume S., Fukushima Y., Ohashi H., Nagai T., Kawame H., Kurosawa K., Touyama M., Shiihara T., Okamoto N., Nishimoto J., Yoshiura K., Ohta T., Kishino T., Niikawa N., Matsumoto N. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am. J. Hum. Genet. 2003, 72:1331-1337.