Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: A recurrent clinical finding

Clinical Dysmorphology

Volumn 25, Issue 1, 2016, Pages 23-26

  Al Shehhi, Maryam ^a   Betts, David ^a   Mc Ardle, Linda ^a   Donoghue, Veronica ^b   Reardon, William ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ETIRACETAM; MEF2C PROTEIN, HUMAN; MYOCYTE ENHANCER FACTOR 2;

ANTICONVULSANT ACTIVITY; ARTICLE; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; FEEDING DIFFICULTY; FOLLOW UP; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MEF2C GENE; MUSCLE HYPOTONIA; NEWBORN CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PREECLAMPSIA; PREGNANCY COMPLICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; CHROMOSOME 5; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; GENETICS; INFANT; JUGULAR VEIN; PATHOLOGY;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HUMANS; INFANT; JUGULAR VEINS; MALE; MEF2 TRANSCRIPTION FACTORS; SEIZURES;

EID: 84951907031     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0000000000000102     Document Type: Article

References (4)

1. Berland S, Houge G (2010). Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C. Clin Dysmorphol 19:222-224.
2. Carr CW, Zimmerman HH, Byrd AC, Martin CL, Vikkula M, Abdul-Rahman OA (2011). 5q14.3 Neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. Am J Med Genet Part A 155:1640-1645.
3. Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, et al. (2010). MEF2C haploinsufficiency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet 47:22-29.
4. Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, et al. (2013). MEF2C haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics 14:99-111.