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De Novo Partial Trisomy 14 and Extra Marker Chromosome in a Newborn Male with The CHARGE Syndrome
Pen-Hua Su,Ming Chen,Jia-Yuh Chen,Suh-Jen Chen,Ju-Shan Yu,Yu-Jie Kai 한국유전학회 2007 Genes & Genomics Vol.29 No.1
The characteristic phenotype of partial trisomy 14 includes growth and developmental retardation, microcephaly, distinctive facies and anomalies of the hands and feet. In many cases, the presence of marker chromosomes complicates the phenotypic picture. We describe a ompatible with CHARGE syndrome. The patient presented with intrauterine growth retardation, coloboma, heart disease, choanae stenosis, cleft palate, corpus calosum genital anomalies, azygos anterior cerebral artery (ACA), single internal carotid artery (ICA) and ear anomalies. Cytogenetic analysis revealed trisomy 14pter→characterized by spectral karyotyping (SKY) and found to have been derived from chromosome 1. No pathogenic mutation was detected in the CHD7 gene. This case apears to be the first report of a patient having both trisomy 14 with marker chromosome 1 and the CHARGE syndrome, and it presents a unique opportunity to observe the overlaping
Pen Hua Su,Jia Yuh Chen,Ju Shan Yu,Suh Jen Chen,Jui Ming Hu,Jia Min Yang 한국유전학회 2007 Genes & Genomics Vol.29 No.3
X-linked chondrodysplasia punctata (CDPX 1) is a congenital disorder characterized by abnormalities in cartilage and bone development. Here, we examined a young, male subject diagnosed with chondrodysplasia punctata presented by typical radiologic findings of calcific stippling at the vertebrae as well as in the sacral area. CDPX 1 has long been thought to be a hereditary disease of generalized skeletal dysplasia. We discovered a de novo frame shift mutation in the arylsulphatase gene, ARSE, which generated an early stop codon. Remarkably, the mother of the newborn subject consumed Chinese herbs, cnidiir rhizome, during the entire pregnancy period. To the best of our knowledge, this is the first report of chondrodysplasia punctata that is correlated with mutations in exon 9 of the ARSE gene. Furthermore, we postulated that consuming specific herbs during prolonged periods while pregnant could be directly or indirectly related to the occurrence of mutation in the ARSE gene and may as a consequence lead to drug embryopathy.
Pen Hua Su,Ju Shan Yu,Suh Jen Chen,Jia Yuh Chen 한국유전학회 2008 Genes & Genomics Vol.30 No.3
Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by distinctive facial dysmorphism, including low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, and carp mouth; prenatal and postnatal growth retardation; mental retardation; limb anomalies; and multiple organ defects. The disease is caused by mutations in the NIPBL gene located at 5p13.1. To date, a variety of NIPBL mutations have been identified and shown to be associated with CdLS symptoms. Here, three Taiwanese subjects exhibiting multiple features of CdLS were analyzed in this study. One of the subjects characterized by classic CdLS symptoms had a novel frameshift mutation (C.3196delT) in exon11 of the NIPBL gene complex followed by a premature termination codon four amino acids downstream, whereas the two other subjects characterized by less pronounced CdLS symptoms had no detectable mutations in that part of thethe NIPBL gene complex that was analyzed herein. However, the former two subjects had a novel and unreported polymorphism in exon 33 that was also detected in the corresponding allele of 77 of 200 healthy Taiwanese control subjects. In conclusion, we report a novel NIPBL mutation likely associated with CdLS and one new polymorphism that is likely not related to CdLS. These observations suggest that truncating mutations were generally associated with a more severe phenotype. Additional studies using an expanded population of CdLS patients are being performed to enhance our understanding of the role of NIPBL in CdLS pathogenesis.
Pen Hua Su,Jia Yuh Chen,Ju Shan Yu,Suh Jen Chen,Teng Fu Tsao,Shih Jei Tsai 한국유전학회 2008 Genes & Genomics Vol.30 No.4
Cleidocranial dysplasia (CCD, #119600) is a rare, autosomal dominant bone disease characterized by hypoplastic or aplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal disorders. This disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors (RUNX2). We report one Taiwanese girl with CCD, with multiple wormian bones, persistent synchondrosis, supernumerary teeth, hypoplasia of clavicles, delayed ossification of pubic bone, and short stature. She also has partial fusion of the left 4th and 5th ribs, and posterior cerebral artery malformation. We performed sequence analysis of the RUNX2 gene, and detected a heterozygous C to G transition mutation at nucleotide 1115 in exon 7, leading to P372R mutation. This is an unreported missense mutation in exon 7 which effected the trausactivation domain of RUNX2.
Pen Hua Su,Jia Yuh Chen,Suh Jen Chen 한국유전학회 2008 Genes & Genomics Vol.30 No.1
We report on a 10-year-old boy with severe psychomotor retardation and craniofacial anomalies. Using high resolution GTG banding, SKY FISH, and CGH analysis, he was found to be carrying a del(7)(q34) inherited from a paternal balanced translocation t(6;7)(qter;q34). Reported deletions of the terminal part of the 7q chromosome have not been associated with a clearly distinctive and recognizable phenotype. Frequent findings included: pre/postnatal growth and developmental retardation, microcephaly, eye anomalies, flat/broad nasal bridge with bulbous nasal tip, genital abnormalities and brain defects. In addition to the typical abnormalities, this case further provides evidence for a pituitary dwarfism. The patient was beneficially treated with human growth hormone.