Progress, challenges, and future perspectives in genetic researches of stuttering

• 발행기관: 대한의학유전학회
• 저자명: Changsoo Kang
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 75~82쪽, 전체 8쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

Speech and language functions are highly cognitive and human-specific features. The underlying causes of normal speech and language function are believed to reside in the human brain. Developmental persistent stuttering, a speech and language disorder, has been regarded as the most challenging disorder in determining genetic causes because of the high percentage of spontaneous recovery in stutters. This mysterious characteristic hinders speech pathologists from discriminating recovered stutters from completely normal individuals. Over the last several decades, several genetic approaches have been used to identify the genetic causes of stuttering, and remarkable progress has been made in genome-wide linkage analysis followed by gene sequencing. So far, four genes, namely GNPTAB, GNPTG, NAGPA, and AP4E1, are known to cause stuttering. Fur-thermore, thegeneration of mouse models of stuttering and morphometry analysis has created new ways for researchers to identify brain regions that participate in human speech function and to understand the neuropathology of stuttering. In this review, we aimed to investigate previous progress, challenges, and future perspectives in understanding the genetics and neu-ropathology underlying persistent developmental stuttering.

목차

Introduction

Evidence of Genetic Contributions to Stuttering

Genome-wide Linkage Scans and Association Studies

GNPTAB Gene and Developmental Persistent Stuttering

Lysosomal Enzyme-trafficking Pathway and Developmental Persistent Stuttering

AP4E1 and Developmental Persistent Stuttering

Mouse Model of Stuttering and Ultrasonic Vocalization

Future Challenges and Perspectives

Conclusion

Acknowledgements

References

키워드

Speech Stuttering Lysosome Genetics