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Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
Hitomi Yatsuki,Ken Higashimoto,Kosuke Jozaki,Kayoko Koide,Junichiro Okada,Yoriko Watanabe,Nobuhiko Okamoto,Yoshinobu Tsuno,Yoko Yoshida,Kazutoshi Ueda,Kenji Shimizu,Hirofumi Ohashi,Tsunehiro Mukai,Hid 한국유전학회 2013 Genes & Genomics Vol.35 No.2
Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor features. BWS is caused by several genetic/epigenetic alterations, such as loss of methylation at KvDMR1,gain of methylation at H19-DMR, paternal uniparental disomy of chromosome 11, CDKN1C mutations, and structural abnormalities of chromosome 11. CDKN1C is an imprinted gene with maternal preferential expression, encoding for a cyclin-dependent kinase (CDK) inhibitor. Mutations in CDKN1C are found in 40 % of familial BWS cases with dominant maternal transmission and in *5 % of sporadic cases. In this study, we searched for CDKN1C mutations in 37BWS cases that had no evidence for other alterations. We found five mutations—four novel and one known—from a total of six patients. Four were maternally inherited and one was a de novo mutation. Two frame-shift mutations and one nonsense mutation abolished the QT domain, containing a PCNA-binding domain and a nuclear localization signal. Two missense mutations occurred in the CDK inhibitory domain,diminishing its inhibitory function. The above-mentioned mutations were predicted by in silico analysis to lead to loss of function; therefore, we strongly suspect that such anomalies are causative in the etiology of BWS.
Kim, Su Jin,Bieganski, Tadeusz,Sohn, Young Bae,Kozlowski, Kazimierz,Sem?nov, Mikhail,Okamoto, Nobuhiko,Kim, Chi Hwa,Ko, Ah-Ra,Ahn, Geung Hwan,Choi, Yoon-La,Park, Sung Won,Ki, Chang-Seok,Kim, Ok-Hwa,Ni Springer-Verlag 2011 HUMAN GENETICS Vol.129 No.5
<P>Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extremely rare sclerosing bone dysplasia resulting facial distortion referred to as 'leontiasis ossea', could also be caused by SOST mutations. We discovered mutations c.61G>A (Val21Met) and c.61G>T (Val21Leu) two children with CDD. As these mutations are located in the secretion signal of the SOST gene, we tested their effect on secretion by transfecting the mutant constructs into 293E cells. Intriguingly, these mutations greatly reduced the secretion of SOST. We conclude that CDD, the most severe form of sclerotic bone disease, is part of a spectrum of disease caused by mutations in SOST. Unlike the other SOST-related conditions, sclerosteosis and Van Buchem disease that are inherited as recessive traits seem to be caused by a dominant negative mechanism.</P>
Masaki Onoyama,Takeshi Tsuka,Tomohiro Imagawa,Tomohiro Osaki,Saburo Minami,Kazuo Azuma,Kazuhiko Kawashima,Hiroshi Ishi,Takahiro Takayama,Nobuhiko Ogawa,Yoshiharu Okamoto 대한수의학회 2014 JOURNAL OF VETERINARY SCIENCE Vol.15 No.1
Sixteen cases of malignant soft tissue sarcoma (STS; 10canines and six felines) were treated with a novel tripletherapy that combined photodynamic therapy, hyperthermiausing indocyanine green with a broadband light source, andlocal chemotherapy after surgical tumor resection. This tripletherapy was called photodynamic hyperthermal chemotherapy(PHCT). In all cases, the surgical margin was insufficient. Inone feline case, PHCT was performed without surgicalresection. PHCT was performed over an interval of 1 to 2 weeksand was repeated three to 21 times. No severe side effects,including severe skin burns, necrosis, or skin suture rupture,were observed in any of the animals. No disease recurrence wasobserved in seven out of 10 (70.0%) dogs and three out of six(50.0%) cats over the follow-up periods ranging from 238 to1901 days. These results suggest that PHCT decreases the riskof STS recurrence. PHCT should therefore be considered anadjuvant therapy for treating companion animals with STS inveterinary medicine.