OBJECTIVE To investigate whether the KCNN4 gene and KPTN gene contribute to a Chinese non-syndromic hearing loss pedigree linked to DFNA4 with positional candidate approach. METHODS The complete coding region of the two genes were amplified with polymerase chain reaction (PCR), and bidirectional sequencing of the PCR products was subsequently applied in the 36 family members to identify the possible mutations or polymorphisms in the candidate genes. RESULTS Sequence analysis of coding regions and splice sites of the two candidate genes in 36 members including 12 hearing-impaired individuals in family Z002 failed to demonstrate any deafness-causing mutations of KCNN4 gene. There was one heterozygous mutation identified in exon10 coding sequence (942C/T) of KPTN gene, which did not result in amino acid change (P302P) as a repoerted synonymous SNP site (rs2293424). This SNP site did not cosegregate with the phenotype of family Z002. CONCLUSION Our study excluded the two candidates, KCNN4 and KPTN , as the causative genes involved in this Chinese DFNA4 pedigree.

OBJECTIVE To investigate the contribution of the GJB6 gene [encoding connexin 30 (C?30)] mutations in Chinese population with sporadic non-syndromic hearing impairment. METHODS PCR reactions were performed with two pair of primers for the coding sequence of GJB6 gene and for the deletion of GJB6. PCR products bidirectional sequencing was subsequently applied in 214 patients with hearing loss and 86 normal controls. RESULTS A novel heterozygous mutation-233(C→A) was found, which results in amino acid change, A78D. This mutation wasn't detected in the control subjects. The altered valine residue lies within the second conserved transmembrane domain. The large deletion△(GJB6/ D13S1830)] of GJB6 was not found in this group. CONCLUSION The large deletion of GJB6 was not found in the Chinese deafness population. A novel heterozygous mutation of GJB6 was found. These results indicated GJB6 mutations are not a major cause of hearing loss in the Chinese population.

Objective To analyze epidemiological characteristics of mitochondrial DNA12SrRNA A1555G mutation in Chinese populations with non-syndromic sensorineural hearing loss by the literature review and find the main actual deficiencies in course of epidemiological study.Methods From Cbmdisc and PUBMED database pulled out were all published epidemiological literatures about Chinese mtDNA12SrRNA A1555G mutation from 1996 to 2008.Reviewed were the primary data of these studies including the number of samples,demographic characteristics of the samples,mutation frequencies,interrelations between the mutation and aminoglycoside exposure and so on.Results 21 papers out of 25 were induded in this study.The patients had non-syndromic sensorineural hearing loss from 14 regions of China.A total of 3 473 were found including 230 patients with A1555G mutation and the average mutation frequency was 6.62%.The samples in each regions ranged from 72 to 802 and the reported mutation frequencies were from 0.67%-14.6%.The statistical discrepancy was significant among mutation frequencies in different regions by χ~2 test(P=0.0000).The number of patients with aminoglycoside antibiotics exposure was 739 including 100 with A1555G mutation in all literatures.The proportions in different regions were from 2.70% to 33.33% with the average of 13.53%.The average proportion was significantly higher than the mutation frequency in patients with non-syndromic sensorineural hearing loss.Conclusion Some deficiencies in epidemiological research Omutation in China included age,ethnic,and geographic bias,insufficiency of samples,inadequate randomization and so on.Researchers should focus with more efforts on the epidemiological characteristics of A1555G mutation in Chinese people.

OBJECTIVE To investigate the incidence of the mitochondrial DNA 12SrRNA A1555G and connexin 26 gene (GJB2) in Chinese northwest population with nonsyndromic sensorineural hearing loss,and to explore the relationship between mitochondrial DNA A1555G and mutation of GJB2 gene. METHODS Blood samples were obtained from 221 patients with nonsyndromic sensorineural hearing loss in Northwest of China; Genomic DNA was extracted from the isolated leukocytes ; Screening the mitochondrial A1555G mutation by PCR-Alw26l digestion and sequence analysis, PCR and direct sequencing were used to analyze the coding region of GJB2 gene. RESULTS The homoplasmic A1555G mutation was found in 21 individuals of 221 patients,17 of these 21 patients had been treated with aminoglycosides. Eleven different variants of GJB2 were found in all patients ,the disease-causing mutations of GJB2 were 44 individuals in these patients(44/221), The mutation 235delC is found in 54.54 % of all disease-causing mutations ; Among 21 patients with the A1555G mutation, 11 cases were found polymorphic change in GJB2 gene ,only 1 case had V37I heterozygous mutations ,other 9 cases were not found any nucleotide changes of GJB2 gene. CONCLUSION The mtDNA 12SrRNA A1555G mutation has a high incidence in Chinese northwest population with non-syndromic sensorineural hearing loss.The 235delC mutation in the GJB2 gene is most frequent mutations responsible for non-syndromic hearing impairment in this region .It is unlikely that the GJB2 gene is a major modulatory factor for hearing loss due to the A1555G mutation in Chinese population.

Objective:To investigate the maxillofacial morphological development of children with different types of cleft palate after cleft palate repair.Methods:The clinical data of children who underwent cleft palate repair in the Department of Plastic Surgery, Children’s Hospital of Fudan University from January 2015 to December 2020 and normal children during the same period were retrospectively analyzed. All the included children were treated by the same physician at 8 to 18 months of age with loose incision and Langenbeck repair for cleft palate. X-ray cephalometric data and facial three-dimensional scanning data were obtained from the maxillofacial database of the Plastic Surgery Department of the hospital. According to the type and age of cleft palate, the children with cleft palate were divided into 6 groups: Group 1, 8 months to 1 years old children with grade Ⅰ cleft palate before operation; Group 2, 8 months to 1 year old children with grade Ⅱ-Ⅲ cleft palate before operation; Group 3, 2-3 years old children with grade Ⅰ cleft palate after operation; Group 4, 2-3 years old children with grade Ⅱ-Ⅲ cleft palate after operation; Group 5, 4-6 years old children with grade Ⅰ cleft palate after surgery; Group 6, 4-6 years old children with grade Ⅱ-Ⅲ cleft palate after operation. According to age, normal children were divided into three groups: Group 7, 8 months to 1 year old normal children; Group 8, 2-3 years old normal children; Group 9, 4-6 years old normal children. Analysis of variance was used to compare the measurement data of normal distribution between groups. Dunnett- t test was used to compare the maxillofacial features of children with grade Ⅰ cleft palate and grade Ⅱ-Ⅲ cleft palate with normal children of the same age. Results:A total of 183 children with cleft palate were included, including 84 females and 99 males, aged (3.6±2.1) years. There were 302 normal children, including 114 females and 188 males, aged (4.1±1.9) years. Groups 1 to 9 included 23, 46, 19, 37, 23, 35, 83, 105 and 114 children, respectively. The analysis result showed that the horizontal length, vertical height and angle of maxillary and mandibular were not significantly different from that of normal children of the same age in the preoperative cephalometric and three-dimensional scanning result of the children with grade Ⅰ and Ⅱ-Ⅲ cleft palate. However, the horizontal length, vertical height and angle of maxillary and mandibular were significantly different from that of normal children of the same age at 2-3 years and 4-6 years after surgery. Moreover, the difference between maxillofacial characteristics of children with grade Ⅱ-Ⅲ cleft palate and normal children of the same age is more significant than that of children with grade Ⅰ cleft palate.Conclusion:Maxillofacial morphological development is inhibited at different ages in children with different types of cleft palate after repair, which is manifested as the backward development of maxillofacial horizontal length, vertical height and angle of maxillary and mandible. Moreover, the maxillofacial morphological development inhibition was more serious in children with grade Ⅱ-Ⅲ cleft palate than in children with grade Ⅰ cleft palate.

Objective:To investigate the maxillofacial morphological development of children with different types of cleft palate after cleft palate repair.Methods:The clinical data of children who underwent cleft palate repair in the Department of Plastic Surgery, Children’s Hospital of Fudan University from January 2015 to December 2020 and normal children during the same period were retrospectively analyzed. All the included children were treated by the same physician at 8 to 18 months of age with loose incision and Langenbeck repair for cleft palate. X-ray cephalometric data and facial three-dimensional scanning data were obtained from the maxillofacial database of the Plastic Surgery Department of the hospital. According to the type and age of cleft palate, the children with cleft palate were divided into 6 groups: Group 1, 8 months to 1 years old children with grade Ⅰ cleft palate before operation; Group 2, 8 months to 1 year old children with grade Ⅱ-Ⅲ cleft palate before operation; Group 3, 2-3 years old children with grade Ⅰ cleft palate after operation; Group 4, 2-3 years old children with grade Ⅱ-Ⅲ cleft palate after operation; Group 5, 4-6 years old children with grade Ⅰ cleft palate after surgery; Group 6, 4-6 years old children with grade Ⅱ-Ⅲ cleft palate after operation. According to age, normal children were divided into three groups: Group 7, 8 months to 1 year old normal children; Group 8, 2-3 years old normal children; Group 9, 4-6 years old normal children. Analysis of variance was used to compare the measurement data of normal distribution between groups. Dunnett- t test was used to compare the maxillofacial features of children with grade Ⅰ cleft palate and grade Ⅱ-Ⅲ cleft palate with normal children of the same age. Results:A total of 183 children with cleft palate were included, including 84 females and 99 males, aged (3.6±2.1) years. There were 302 normal children, including 114 females and 188 males, aged (4.1±1.9) years. Groups 1 to 9 included 23, 46, 19, 37, 23, 35, 83, 105 and 114 children, respectively. The analysis result showed that the horizontal length, vertical height and angle of maxillary and mandibular were not significantly different from that of normal children of the same age in the preoperative cephalometric and three-dimensional scanning result of the children with grade Ⅰ and Ⅱ-Ⅲ cleft palate. However, the horizontal length, vertical height and angle of maxillary and mandibular were significantly different from that of normal children of the same age at 2-3 years and 4-6 years after surgery. Moreover, the difference between maxillofacial characteristics of children with grade Ⅱ-Ⅲ cleft palate and normal children of the same age is more significant than that of children with grade Ⅰ cleft palate.Conclusion:Maxillofacial morphological development is inhibited at different ages in children with different types of cleft palate after repair, which is manifested as the backward development of maxillofacial horizontal length, vertical height and angle of maxillary and mandible. Moreover, the maxillofacial morphological development inhibition was more serious in children with grade Ⅱ-Ⅲ cleft palate than in children with grade Ⅰ cleft palate.