Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion. Issue 1 (December 2015)

• Record Type: Journal Article
• Authors: Li, Qi; Zhang, Zhen; Yan, Yuchun; Xiao, Ping; Gao, Zhijie; Cheng, Wei; Su, Lin; Yu, Kaihui; Xie, Hua; Chen, Xiaoli; Jiang, Qian; Li, Long
• Is Part Of: Molecular cytogenetics. Volume 8:Issue 1(2015)
• Page Start: 1
• Page End: 6
• Publication Date: 2015-12
• Subjects: Annular pancreas -- 8q23.3-q24.12 deletion -- Trichorhinophalangeal syndrome type II -- Chinese -- qPCR; Cytogenetics -- Periodicals; Chromosomes -- Periodicals; Molecular genetics -- Periodicals; 572.805
• DOI: 10.1186/s13039-015-0201-0
• Languages: English
• ISSNs: 1755-8166

Abstract

Abstract Background Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of theTRPS1 gene at 8q23.3 and theEXT1 gene at 8q24.11 are considered to be responsible for the syndrome. Case Presentation Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II. Conclusions A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating ade novo origin of the deletion and complete penetrance of the mutation.