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Updating Genetics Polymorphisms of non-syndromic Clefts Lip-Palates

American Journal of Molecular Biology 2018年第3期8卷 178-185页

作者： Amine Rafik Sellama Nadifi Laboratory of Genetics and Molecular Pathology University Hassan II Casablanca Morocco

Introduction: non-syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of environmental and genetic factors. This paper provides a review of recent progress in defining the genetic causes of NSCLP. Methods: A literature review was conducted on the Medline data by searching for the following keywords: genes, non-syndromic cleft lip-palate, and genetics of clefts lip-palates, until January 2018. Results: Various genes are identified in different population and country, with the study using case parent’s trio. The aim of this study contributes to review relative gene which has been identify in non-syndromic cleft lip and palate, and to help to have a better understanding of the inheritance pattern of this pathology and the prevention of genetic disease. Conclusion: Although three major genes have been confirmed, the genetic research is necessary to provide an understanding of the pathophysiology of the clefts lip-palates.

关键词： Cleft Lip Cleft Palate Cleft Lip and/or Cleft Palate non-syndromic Genetics

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GJB2 mutation spectrum in Inner Mongolia and its comparison with other Asian populations

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Journal of Otology 2007年第2期2卷 81-91页

作者： Lee-Jun C. Wong Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the mutation spectrum and prevalence of mutations vary among different ethnic groups. Every year, 30, 000 babies are born with congenital hearing impairment in China. In order to provide appropriate genetic testing and counseling to the family, we investigated the molecular etiology of nonsyndromic deafness in 135 unrelated school children attending Chifeng Municipal Special Education School in Inner Mongolia, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. In addition, the 12S rRNA gene and tRNAser(UCN) of mitochondrial genome were screened for mutations responsible for hearing impairment. Sixty four GJB2 mutant alleles, including 60 confirmed pathogenic alleles and 4 unclassified variants, were identified in 31.1% (42/135) of the subjects. Twenty two subjects carried two pathogenic mutations and 20 subjects carried one mutant allele, including one subject with one autosomal dominant mutation. The 235delC was the most common mutation accounting for 65.6%(42/64) GJB2 mutant alleles. When compared to other Asian populations, our subject cohort had higher frequency of 235delC mutation than the Japanese population. The GJB2 mutant alleles account for 23.7% (64/270) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 4 most prevalent deleterious frame shift mutations(235delC, 29900delAT, 17691del16, and 56005ins46) in this cohort detected 90% of all GJB2 mutant alleles. These results demonstrate that effective genetic testing of the GJB2 gene for patients and families with nonsyndromic hearing impairment is possible in the Chinese population. Since the most common 309kb GJB6 deletion is not detected and only one 1555 A>G mutation in mitochondrial DNA is detected in our patients, investigation of mutations in other nuclear genes and/or environmental factors responsible for nonsyndromic hearin

关键词： GJB2 mutation non-syndromic hearing impairment

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Polydactyly:Clinical and molecular manifestations

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World Journal of Orthopedics 2023年第1期14卷 13-22页

作者： Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of Genetics and Biotechnology Faculty of BiologyUniversity of AthensAthens 15701Greece Department of Paediatrics Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Laboratory of Histology and Embryology Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece

Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or *** is considered to be one of the most common inherited hand *** can be divided into two major groups:non-syndromic polydactyly or syndromic *** to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial ***-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the *** are several forms of polydactyly,including hand and foot extra digit *** deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the *** treatment is always *** the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of *** research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the *** generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most nonsyndromic and syndromic disorders.

关键词： Polydactyly Gene syndromic non-syndromic Preaxial Postaxial

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