Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1

Neuromuscular Disorders : NMD
Hyung Jun ParkYoung-Chul Choi

Abstract

The objective of this study was to investigate the clinical and genetic features of Korean patients with facioscapulohumeral muscular dystrophy type 1 (FSHD), and assessed the impact of molecular defects on phenotypic expression. We enrolled 104 FSHD patients from 87 unrelated Korean families with D4Z4 repeat array of less than 11 copies on 4q35. Sixty-one men and forty-three women were enrolled. Median D4Z4 copy number was 4 units and 99 (95%) Korean patients with FSHD carried 1-6 units. The median age at symptom onset was 13 [interquartile range: 8-17] years old. In 100 symptomatic patients, muscle weakness began in facial muscles in 58 patients, shoulder-girdle muscles in 37, and pelvic-girdle muscles in 5. Disease severity was significantly correlated with D4Z4 copy number. In addition, women were more severely affected than men even though there were no differences in age at examination or in D4Z4 copy number between the two genders. This gender difference among Korean patients was the opposite of analysis on individuals of European ancestry. In conclusion, the present study demonstrated the new diagnostic threshold for FSHD in Koreans based on the D4Z4 repeat array size distribution from 1 to 6 units and expanded the clin...Continue Reading

References

Jan 1, 1991·Neuromuscular Disorders : NMD·G W PadbergM Fardeau
Oct 2, 2002·Nature Genetics·Richard J L F LemmersSilvère M van der Maarel
Nov 25, 2003·Nature Genetics·Petra G M van OverveldSilvère M van der Maarel
Dec 9, 2003·Neuromuscular Disorders : NMD·M M O ToniniM Zatz
Jan 20, 2004·Journal of Medical Genetics·K GotoY K Hayashi
Sep 24, 2005·Annals of Neurology·Petra G M van OverveldSilvère M van der Maarel
Mar 21, 2006·Neuromuscular Disorders : NMD·Kanako GotoYukiko K Hayashi
Jan 3, 2009·Journal of Korean Medical Science·Chang-Seok KiKwang-Woo Lee
Oct 11, 2011·Human Genetics·Mark RichardsMeena Upadhyaya
Feb 24, 2012·Neuromuscular Disorders : NMD·P SakellariouE Kanavakis
Aug 15, 2014·Neurology·Johanna C W DeenenBaziel G M van Engelen

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Citations

Feb 13, 2018·Yonsei Medical Journal·Hyung Jun ParkYoung Chul Choi
Mar 4, 2020·Genes·Valentina SalsiRossella Tupler
Jul 9, 2016·Current Opinion in Neurology·Karlien MulBaziel G M van Engelen
Aug 1, 2020·Frontiers in Neurology·Daniel Zielonka, Barbara Stawinska-Witoszynska
Jan 1, 2021·Yonsei Medical Journal·Jung Hwan LeeYoung Chul Choi

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