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การวิจัยเวชพันธุศาสตร์ทางคลินิกและอณูพันธุศาสตร์

หน่วยงาน สำนักงานกองทุนสนับสนุนการวิจัย

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ชื่อเรื่อง : การวิจัยเวชพันธุศาสตร์ทางคลินิกและอณูพันธุศาสตร์
นักวิจัย : พีรนิธ กันตะบุตร
คำค้น : Clinical , Molecular Genetics , อณูพันธุศาสตร์ , เวชพันธุศาสตร์ทางคลินิก
หน่วยงาน : สำนักงานกองทุนสนับสนุนการวิจัย
ผู้ร่วมงาน : -
ปีพิมพ์ : 2550
อ้างอิง : http://elibrary.trf.or.th/project_content.asp?PJID=BRG4480018 , http://research.trf.or.th/node/2584
ที่มา : -
ความเชี่ยวชาญ : -
ความสัมพันธ์ : -
ขอบเขตของเนื้อหา : -
บทคัดย่อ/คำอธิบาย :

Paper1: Laurin-Sandrow syndrome with additional associated manifestations. Am J Med Genet 2001; 98:201-215. Kantaputra PN. A Thai man with Laurin-Sandrow syndrome (LSS, MIM 135750), the ninth reported case, is described. He had an underdeveloped nasal bone, scar-like seams under the nose, large heads of mandibular condyles, and brachymesophalangy of toes as newly observed findings of he syndrome. He also had mental retardation. The patient had duplication of ulna, with triphalangeal thumbs, and polydactyly of one finger. The triphalangeal thumbs were non-opposable. Carpal bones were malformed. Mirror image polydactyly of the toes was present. There were nine toes on the right and eight on the left. Joint abnormalities were observed at his elbows, wrists, knees, ankles, fingers, and toes. Synostosis of severely malformed tarsal bones was noted. This appears to be the first case of LSS with anomalies not limited to the nose and limbs. The relationship between LSS, tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome, triphalangeal thumb-polysyndactyly syndrome, preaxial polydactyly types 2 and 3, and Haas-type syndactyly is discussed. Paper 2: “Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): A Newly recognized autosomal recessive syndrome. Am J Med Genet 103:283-288, 2001. We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described. It has been recognized as a “NEW” syndrome in Online Mendelian Inheritance in Man (OMIM). Paper 3: Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome? Am J Med Genet 2001;98:263-268. Kantaputra P, Eiumtrakul P, Matin T, Opastirakul S, Visrutaratna P, Mevate U. We report on an 8-year-old Thai girl with bilateral complete cryptophthalmos, facial asymmetry, delayed bone age, brachymesophalangy and medial deviation of the second toes, and dental anomalies. The dental anomalies consist of delayed dental development, congenital absence of the second premolars, microdontia of the deciduous molars. A fibrous band of the buccal mucosa was found. Dental anomalies are rare among patients with Fraser syndrome. They have not been reported in either isolated or other syndromic cryptophthalmos. The oral manifestations and brachymesophalangy of the second toes found in our patient may represent newly recognized findings associated with cryptophthalmos of they may represent a newly recognized syndrome. Paper 4: Digital dysmorphism with craniofacial and other new associated abnormalities” Clinical Dysmorphology 2001;10:171-175. Kantaputra PN, Chalidapong P, Visrutaratna P. We report digitotalar dysmorphism in a grandfather, father, and a daughter. All the affected members had clasped thumbs. The father had a short stature, large zygomatic arch and a flat mandibular condyle. The newly recognized findings found in the affected girl were large maxillary deciduous central incisors, a short proximal phalanx of the second finger, and a large maxillary deciduous central incisors, a short proximal phalanx of the second finger, and a large subcutaneous hemangioma of the back. Her paternal grandfather had only congenital clasped thumbs. Congenital clasped thumb is a very heterogeneous anomaly and related to many syndromes. The findings in the reported family which are consistent with digitotalar dysmorphism, include congenital clasped thumbs, ulnar deviation of fingers, and a congenital vertical tali. Paper 5: Dentinogenesis imperfecta-associated syndromes. Am J Med Genet 2001:104:75-78. Kantaputra PN This paper reviews he conditions that are related to dentinogenesis imperfecta. Paper 6: A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth. Oral Surg Oral Med Oral Pathol Oral Rodiol Endod. 2001 Sep;92(3):303-7. Kantaputra PN. A Thai girl with skeletal dysplasia and dental anomalies was seen. Her anomalies consisted of disproportionately short stature, short neck, broad and depressed nasal bridge, broad chest in the anteroposterior dimension, kyphosis, widely spaced nipples, and protruded abdomen. Radiographic testing indicated that she had a large sella turcica, platyspondyly, hypoplastic acetabulum, and a small body of mandible. Both her deciduous and permanent teeth were equally opalescent, and most were rootless, with root development of the mandibular teeth more severely affected. Some maxillary roots were extremely short and tapered. Hypodontia was also observed. These findings represent a unique and hitherto undescribed syndrome of skeletal dysplasia with concomitant dental anomalies. Paper 7: Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: Report of a four-generation Thai family Am J Med Genet 108:275-280, 2002 Kantaputra PN, Sumitsawan Y, Schutte BC, Tochareontanaphol C. A four-generation Thai family affected with Van der Woude Syndrome is reported. The disorder appeared to be originally inherited from a person who was half Thai and half Pakistani. The lip lesions found in this family were varied and did not appear to be related to other phenotypes. There were some clinical manifestations possibly specific for the condition in this family. They included sensorineural hearing loss, prominent frontal bone, large frontal/sphenoidal/maxillary sinuses with increased mastoid air cells, long tooth roots, dental pulp stones, ankyloglossia, brachydactyly of hands, brachphalancy, and hyperphalangy of toes, and single flexion crease of the fifth fingers. Fluorescence in situ hybridization analysis revealed no visible deletion at a 1q32-41 region. Paper 8: A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdonia, dental pulp stones, and narrowing of zygomatic arch: A new distal symphalangism syndrome? Am J Med Genet 109:56-60,2002 Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N. A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges of fingers and toes 2-5 were either aplastic/hypoplastic or fused between the corresponding digits. The second fingers and fourth fingernails were most severely affected in both patients. The mother’s hands were less severely affected; the middle and distal phalanges of her hands were malformed and fused. Besides the absence of fusion lines, the shape of the fused middle and distal phalanges was quite different from that of other types of fusion, i.e., fused bones in both patients did not maintain the normal configuration of bone, referring to as “middle-distal phalangeal complex”. Distal symphalangism was observed in toes 2-5 of the mother and in toe 3 of the son. Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones. Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative. It has been recognized as a “NEW” syndrome in Online Medelian Inheritance in Man (OMIM). Paper 9: A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family Am J Med Genet 2002; 111:301-306. Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa N. We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from ratial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt-Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease-causing gene of Holt-Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. Paper 10: Apparently new osteodysplastic and primordial short stature with microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet 2002;111:420-428. Kantaputra PN A Thai man and his sister affected with a newly recognized syndrome of proportionate primordial short stature are reported. The patients had severe intrauterine and postnatal growth retardation, prominent nose and nasal bridge, small pinnae, large sella turcica, areas of hypo- and hyperpigmentation of skin, dry and thin scalp hair, and long and straight clavicles. Ivory epiphyses and cone-shaped epiphyses of the hands were found when they were young, but most of them disappeared as they grew up. Scaphoid and trapezium had angular appearance. The second toes were unusually long. Distal symphalangism of toes and barchymesophaiangy of fingers were noted. The findings that appear to distinguish this syndrome from the previously reported syndromes are long second toes, opalescent and rootless teeth, severe microdontia, severely hypoplastic alveolar process, and unerupted tooth. The mode of inheritance is suspected to be autosomal recessive. Paper 11: A New Syndrome of Symphalangism, Multiple Frenula, Postaxial Polydactyly, Dysplastic Ears, Dental Anomalies, and Exclusion of NOG and GDF5 genes. Am J Med Genet 120A:381-385, 2003 Kantaputra PN, Pongprot Y, Praditsap O, Pho-iam T, Limwongse C. A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, proximal and distal symphalangism of fingers, and congenital absence of the distal phalanges of toes 2-5. Mutation analyses of NOG and GDF5, the genes responsible for symphalangism-related syndromes, were negative. Collaborated with Molecular Genetic Unit, Siriraj Hospital Medical School. This has been considered a new syndrome by OMIM. It has been recognized as “Thai Symphalangism Syndrome” Paper 12: Thyroid Dysfunction in a Patient with Aglossia. Am J Med Genet 122A:274-277, 2003. Kantaputra P, Tanpaiboon P. We report a Thai girl who had aglossia, micrognathia, microsomia, collapse of mandibular arch, persistence of buccopharyngeal membrane, microcephaly, and mild developmental delay. Thyroid function tests indicated that she had subclinical hypothyroidism. Thyroid scan revealed normal uptake of the whole thyroid gland. Tongue morphogenesis is integrally linked to the normal development of thyroid gland, and abnormal tongue morphogenesis could potentially result in a functional thyroid disorder. We propose that micrognathia, microsomia, congenital absence of mandibular incisors, and collapse of the mandibular arch are the result of abnormal tongue development. Paper 13: Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res. 2003 Jun;82(6):433-7. Kantaputra PN, Hamada T, Kumchai T, McGrath JA. Several ectodermal dysplasia syndromes, including Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Dysplasia-Clefting (AEC) Syndromes, are known to result from mutations in the p63 gene. We investigated whether Rapp-Hodgkin syndrome (RHS) is also caused by mutations in the p63 gene. We identified a heterozygous de novo germline missense mutation, S545P, in the sterile-alpha-motif (SAM) domain of p63, in a Thai patient affected with RHS. This is the first genetic abnormality to be described in RHS. The amino acid substitution is the most downstream missense mutation in p63 reported thus far. Histological assessment of a skin biopsy from the patient’s palm showed hyperkeratosis and keratinocyte cell-cell detachment in the upper layers of the epidermis, along with numerous apoptotic keratinocytes. Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation. We were the first group who found the gene responsible for Rapp-Hodgkin Ectodermal Dysplasia. Paper 14: Thirteen-Year-Follow up report on Mesomelic Dysplasia, Kantaputra Type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. (Invited Comments) Am J Med Genet 2004;128A:1-5. Kantaputra PN. This is the 13-year-follow up report on Mesomelic dysplasia, Kantaputra type. It was the genetic bone disorder 1 discovered 13 years ago in Chiang Mai. Recently there have been reports of this syndrome in The Holland and England. Paper 15: Microcephalic Osteodysplastic Primordial Dwarfism with severe microdontia and skin anomalies: Confirmation of a New Syndrome. Am J Med Genet 2004;130A:181-190. Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single-rooted or rootless teeth, severely hypoplastic alveolar bone, caf? au lait spots, acanthosis nigricans, and areas of hypo-and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420-428. Paper 16: A Novel mutation in IRF6 underlies hearing loss, pulp stones, large craniofacial sinuses, and limb anomalies in Vna der Woude syndrome patients. Oral Biosci Med 2004;1:277-282. Kantaputra PN, Limwongse C, Assawamakin A, Praditsap O, Kemaleelakul U, Miedzybrodzka ZH, Kondo S, Schutte B. Van der Woude (VWS) and popliteal pterygium syndromes are caused by mutations in the interferon regulatory factor (IRF6) gene. Two Thai VWS families demonstrating newly recognized findings of VWS are reported. The phenotype in the first family includes sensorineural hearing loss, cleft lip and palate, lower lip anomalies, ankyloglossia, hypodontia, dental pulp stones, large craniofacial sinuses, and limb anomalies. Molecular analysis of IRF6 revealed an 11 bp deletion in exon 4. This frameshift mutation truncates IRF6 just after the DNA binding domain. The mutation implies that IRF6 can affect dental pulp calcification, pneumatization of craniofacial sinuses, and ear and limb development. The second family consists of an affected brother and sister. Both have lower lip anomalies and the sister has cleft lip and palate. Interstingly, both have abnormal shape of the mandibular deciduous and permanent molars. Mutation analysis of IRF6 was negative, suggesting that the mutations may be located outside of the coding exons or in other loci. Paper 17: A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild Syndrome? Am J Med Genet 2005;132:63-67. Kantaputra PN, Tanpaiboon P. We report on a 3-year-old Thai boy with limb, pelvic, and genital malformations. The combination of findings found in this patient is similar to that of Al-Awadi/Raas-Rothchild syndrome (AARRS) or limb/pelvis hypoplasia/aplasia syndrome. The upper limbs are more severely affected than the lower ones. Unlike that of AARRS, the radial ray is more severely affected than the ulnar ray. The presence of humeroulnar synostosis and humero-ulnar-radial synostosis and the absence of a radius distinguishes it from AARRS. The similarities and dissimilarities between the features in the present patient and other limb-pelvic hypoplasia/aplasia syndromes are discussed. The findings in this group of patients appear to demonstrate limb-pelvis-genital organ developmental field defects. Paper 18: Response to: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies by Dr. Judith Hall. Am J Med Genet 130:181-190. Kantaputra PN. and Tanpaiboon P.

บรรณานุกรม :
พีรนิธ กันตะบุตร . (2550). การวิจัยเวชพันธุศาสตร์ทางคลินิกและอณูพันธุศาสตร์.
    กรุงเทพมหานคร : สำนักงานกองทุนสนับสนุนการวิจัย.
พีรนิธ กันตะบุตร . 2550. "การวิจัยเวชพันธุศาสตร์ทางคลินิกและอณูพันธุศาสตร์".
    กรุงเทพมหานคร : สำนักงานกองทุนสนับสนุนการวิจัย.
พีรนิธ กันตะบุตร . "การวิจัยเวชพันธุศาสตร์ทางคลินิกและอณูพันธุศาสตร์."
    กรุงเทพมหานคร : สำนักงานกองทุนสนับสนุนการวิจัย, 2550. Print.
พีรนิธ กันตะบุตร . การวิจัยเวชพันธุศาสตร์ทางคลินิกและอณูพันธุศาสตร์. กรุงเทพมหานคร : สำนักงานกองทุนสนับสนุนการวิจัย; 2550.