The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Autor: Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Abstract Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation

Externí odkaz: https://doaj.org/article/8b47cc4e100149eabcf38a90b8391572

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

Autor: Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung

Publikováno v: BMC Medical Genomics, Vol 11, Iss 1, Pp 1-10 (2018)

Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in

Externí odkaz: https://doaj.org/article/282d5793434f48b0ae2433ea3829b919

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.

Autor: Yeung, Kit San¹ (AUTHOR), Yu, Florrie N. Y.² (AUTHOR), Fung, Cheuk Wing³ (AUTHOR), Wong, Sheila³ (AUTHOR), Lee, Hencher H. C.⁴ (AUTHOR), Fung, Sharon T. H.⁵ (AUTHOR), Fung, Genevieve P. G.⁶ (AUTHOR), Leung, Kwok Yin² (AUTHOR), Chung, Wai Hang⁷ (AUTHOR), Lee, Yun Ting⁸ (AUTHOR), Ng, Vivian K. S.⁹ (AUTHOR), Yu, Mullin H. C.¹ (AUTHOR), Fung, Jasmine L. F.¹ (AUTHOR), Tsang, Mandy H. Y.¹ (AUTHOR), Chan, Kelvin Y. K.^10,11 (AUTHOR), Chan, Sophelia H. S.¹ (AUTHOR) sophehs@hku.hk, Kan, Anita S. Y.^10,11 (AUTHOR) kansya@hku.hk, Chung, Brian H. Y.¹ (AUTHOR) bhychung@hku.hk

Publikováno v: Molecular Genetics & Genomic Medicine. Jul2020, Vol. 8 Issue 7, p1-7. 7p.

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency.

Autor: Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing

Publikováno v: Journal of Inherited Metabolic Disease Reports; May2019, Vol. 47 Issue 1, p23-29, 7p

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

Autor: Leung, Gordon K C¹, Mak, Christopher C Y¹, Fung, Jasmine L F¹, Wong, Wilfred H S¹, Tsang, Mandy H Y¹, Yu, Mullin H C¹, Pei, Steven L C¹, Yeung, K S¹, Mok, Gary T K¹, Lee, C P², Hui, Amelia P W², Tang, Mary H Y^2,3, Chan, Kelvin Y K^2,3, Liu, Anthony P Y¹, Yang, Wanling¹, Sham, P C⁴, Kan, Anita S Y^2,3 a+852-2589-2414kansya@hku.hk, Chung, Brian H Y^1,2,3 b+852-2255-4482bhychung@hku.hk

Publikováno v: BMC Medical Genomics. 10/25/2018, Vol. 11 Issue 1, pN.PAG-N.PAG. 1p.