• Genomics & Informatics
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• 제5권2호
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• pp.56-60
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• 2007

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial birth defect that is the result of a mixture of genetic and environmental factors. While studies have identified a number of different candidate genes and loci for the etiology of CL/P, the results have not been consistent among different ethnic groups. To study the genetic association of the candidate genes in Korean patients affected by CL/P, we genotyped 97 nonsyndromic CL/P patients and 100 control individuals using single nucleotide polymorphic markers at the MTHFR, TGFA, and IRF6 genes. We report that the T3827C marker at TGFA showed significant association with nonsyndromic CL/P, but all the other markers tested were not significantly associated with nonsyndromic CL/P in Korean patients.

• 대한치과교정학회지
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• 제38권2호
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• pp.133-143
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• 2008

이 연구는 한국인 비증후군성 구순구개열자에서 구순구개열과 치아결손의 중요한 원인 중 하나로 의심되는 MSX1 유전자(locus chromosome 4p16)의 특성을 밝히기 위해 시행되었다. 1998년부터 2002년까지 부산대학교병원 치과교정과에 내원한 36명(남자:23, 여자:13)의 비증후군성 구순수 개열자를 대상으로 하였다. 모든 대상의 혈액을 채취하여 중합 효소연쇄반응(polymerase chain reaction)에 기초한 유전자 분석을 시행하여, MSX1 유전자를 증폭하고, 염기서열을 분석하였으며, 추론되는 단백질 생성물에 대해서도 연구하였다. 이미 밝혀진 Homo sapiens MSX1, accession number AF426432와 NP_002439를 참고로 하여 비교 분석한 결과 공통적인 단일 염기 다형성이 존재하였다. exon 1에서, 253번째 부위의 염기 "A"가 "G"로 치환되었고, 255번째 부위에서 염기 "G"가 삽입되었다. exon 2에서 11번째 부위에서 염기"C"가 "A"로 치환되었고, 351부위에서 염기"T" 또는 "G"가 삽입되었고 352부위에서 염기"T" 또는 "A"가 삽입되었다. 한국인 비증후군성 구순구개열자에서 다른 인종에서 발견된 돌연변이와는 다른 "Thr85A1a" missense 돌연변이가 발견되었다. 이는 한국인 비증후군성 구순구개열에서도 MSX1 유전자가 중요한 원인이 될 수 있고 한국인의 독특한 돌연변이가 존재한다는 가능성을 제시한 것이다. 그러나, 구개열 부위의 치아결손과 관련해서는 어떠한 유전자 특징도 관찰되지 않았다.

• Archives of Plastic Surgery
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• 제44권3호
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• pp.202-209
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• 2017

Background No consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP). Methods This was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ${\geq}17$ years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation. Results Forty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years). Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (P<0.001). In total, 36% showed mild to moderate hypernasality during the speech assessment, and 11%-17% of the patients exhibited increased nasalance scores, assessed through nasometry. Conclusions The present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence.