Clinical lessons learned from the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
The International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate ((AEC) Syndrome, that was supported by the National Foundation for Ectodermal Dysplasias (NFED) through a grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institutes of Health Office of Rare Diseases (NIH-ORD), brought together physicians, scientists, and 23 individuals affected by AEC syndrome from 13 families. Eighteen of the AEC-affected individuals were enrolled in an IRB-approved protocol through Baylor College of Medicine. Enrolled participants had clinical evaluations by multiple subspecialists, and additionally submitted blood for mutational analysis and skin specimens for pathologic evaluation. One of the goals of the conference was to define clinical and pathologic findings for improved diagnostic criteria, with the hope of determining genotype-phenotype correlations that might aid in predicting prognosis or directing therapeutics. What we found was wide interfamilial and intrafamilial variability in the manifestations of the syndrome. We were unable to identify any specific genotype-phenotype correlations. This may relate to our small sample size or other unknown epigenetic factors that are also at play in the expression and manifestation of the syndrome in specific individuals.
Bree
Alanna F
AF
Department of Pediatric Dermatology, Texas Children's Hospital, Baylor College of Medicine, 6621 Fannin Street CC 620.16, Houston, TX 77030, USA. afbree@bcm.tmc.edu
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000473:pathology; D005190:Family; D005260:Female; D005528:Foot / Q000473:pathology; D006225:Hand / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012535:Scalp / Q000473:pathology; D035781:Siblings; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics; D055815:Young Adult
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins