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| 標題: | Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families |
| 作者: | Asif, Muhammad
Chiou, Chien-Chun
Hussain, Malik Fiaz
Hussain, Manzoor
Sajid, Zureesha
Gulsher, Muhammad
Raheem, Afifa
Khan, Adil
Nasreen, Nasreen
Kloczkowski, Andrzej
Hassan, Mubashir
Iqbal, Furhan
Chen, Chien-Chin |
| 貢獻者: | Bahauddin Zakariya Univ, Inst Mol Biol & Biotechnol
Bahauddin Zakariya Univ, Inst Zool
Chiayi Yi Christian Hosp, Ditmanson Med Fdn, Dept Dermatol
Nishter Med Univ Multan
Islamia Univ Bahawalpur, Inst Biochem Biotechnol & Bioinformat, Dept Biotechnol, Baghdad ul Jadeed Campus
Children Hosp & Inst Child Hlth
Bacha Khan Univ, Dept Bot & Zool
Abdul Wali Khan Univ, Dept Zool
Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med
Ohio State Univ, Dept Pediat, Columbus
Chia Yi Christian Hosp, Ditmanson Med Fdn, Dept Pathol
Chia Nan Univ Pharm & Sci, Dept Cosmet Sci
Natl Chung Hsing Univ, Rong Hsing Res Ctr Translat Med, PhD Program Translat Med
Natl Cheng Kung Univ, Coll Biosci & Biotechnol, Dept Biotechnol & Bioind Sci |
| 關鍵字: | Charcot-Marie-Tooth disease
WES
Sanger sequencing
consanguineous families
Pakistan |
| 日期: | 2023 |
| 上傳時間: | 2024-12-25 11:05:22 (UTC+8) |
| 出版者: | MARY ANN LIEBERT, INC |
| 摘要: | Charcot-Marie-Tooth disease (CMT) is a heritable neurodegenerative disease of peripheral nervous system diseases in which more than 100 genes and their mutations are associated. Two consanguineous families Dera Ghazi Khan (PAK-CMT1-DG KHAN) and Layyah (PAK-CMT2-LAYYAH) with multiple CMT-affected subjects were enrolled from Punjab province in Pakistan. Basic epidemiological data were collected for the subjects. Nerve conduction study (NCS) and electromyography (EMG) were performed for the patients. Whole-exome sequencing (WES) followed by Sanger sequencing was applied to report the genetic basic of CMT. The NCS findings revealed that sensory and motor nerve conduction velocities for both families were <38 m/s. EMG presented denervation, neuropathic motor unit potential, and reduced interference pattern of peripheral nerves. WES identified that a novel nonsense mutation (c. 226 G>T) in GADP1 gene and a previously known missense mutation in MFN2 gene (c. 334 G>A) cause CMT4A (Charcot-Marie-Tooth disease type 4A) in the PAK-CMT1-DG KHAN family and CMT2A (Charcot-Marie-Tooth disease type 2A) in the PAK-CMT2-LAYYAH family, respectively. Mutations followed Mendelian pattern with autosomal recessive mode of inheritance. Multiple sequence alignment by Clustal Omega indicated that mutation-containing domain in both genes is highly conserved, and in situ analysis revealed that both mutations are likely to be pathogenic. We reported that a novel nonsense mutation and a previously known missense mutation in GAPD1 gene and MFN2 gene, respectively, cause CMT in consanguineous Pakistani families. |
| 關聯: | Dna and Cell Biology, v.42, n.11, pp.697-708 |
| 顯示於類別: | [行政單位] 456
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