Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)

Clinical Dysmorphology

Volumn 20, Issue 4, 2011, Pages 222-224

  Wierzba, Jolanta ^a   Kuzniacka, Alina ^a   Ratajska, Magdalena ^a   Lipska, Beata Stefania ^a   Kardas, Iwona ^a   Iliszko, Mariola ^a   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

GASTROINTESTINAL AGENT; NIPPED B HOMOLOG PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARM MALFORMATION; ARTICLE; ASSISTED VENTILATION; BODY TEMPERATURE DISORDER; CASE REPORT; CHROMOSOME TRANSLOCATION; CRYPTORCHISM; CUTIS MARMORATA TELANGIECTATICA CONGENITA; CYTOGENETICS; DE LANGE SYNDROME; FACE DYSMORPHIA; GASTROESOPHAGEAL REFLUX; GASTROSCOPY; GASTROSTOMY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HIRSUTISM; HUMAN; HYPOSPADIAS; INFANT; KARYOTYPING; MALE; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RNA SPLICING; STOMACH FUNDOPLICATION; SYNDACTYLY;

BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 5; DE LANGE SYNDROME; HUMANS; INFANT; INTRONS; KARYOTYPING; MUTATION; PHENOTYPE; PROTEINS; RNA SPLICE SITES; TRANSLOCATION, GENETIC;

EID: 80052676590     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283455175     Document Type: Article

References (5)

1. DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID (2005). Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosomal rearrangements. Am J Med Genet 137A:276-282. (Pubitemid 41262660)
2. Jahnke P, Xu W, Wülling M, Albrecht M, Gabriel H, Gillessen-Kaesbach G, Kaiser FJ (2008). The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res 36:6450-6458.
3. Pié J, Gil-Rodŕiguez MC, Ciero M, López-Vinas E, Ribate MP, Arnedo M, et al. (2010). Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet 152A:924-929.
4. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, et al. (2010). Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet 53:378-382.
5. Tonkin EY, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004). NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36: 636-641. (Pubitemid 38715993)