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Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
Li, Zhongzheng; Zeng, Sen; Xie, Yongzhi; Li, Xiaobo; Huang, Shunxiang; Zhao, Huadong; Cao, Wanqian; Liu, Lei; Wang, Mengli; Gong, Qiaoyu; Liu, Jun; Rong, Pengfei; Zhang, Ruxu.
Afiliación
  • Li Z; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zeng S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Xie Y; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Li X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Huang S; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zhao H; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Cao W; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Liu L; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Wang M; Health Management Center, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Gong Q; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Liu J; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Rong P; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zhang R; Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China.
J Peripher Nerv Syst ; 29(2): 232-242, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38705839
ABSTRACT
BACKGROUND AND

AIMS:

Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause axonal or demyelinating Charcot-Marie-Tooth disease (CMT) with autosomal dominant or recessive inheritance. In this study, we aim to report the genotypic and phenotypic features of GDAP1-related CMT in a Chinese cohort.

METHODS:

Clinical, neurophysiological, genetic data, and available muscle/brain imaging information of 28 CMT patients with GDAP1 variants were retrospectively collected.

RESULTS:

We identified 16 GDAP1 pathogenic variants, among which two novel variants c.980dup(p.L328FfsX25) and c.480+4T>G were first reported. Most patients (16/28) presented with AR or AD CMT2K phenotype. Clinical characteristics in our cohort demonstrated that the AR patients presented earlier onset, more severe phenotype compared with the AD patients. Considerable intra-familial phenotypic variability was observed among three AD families. Muscle atrophy and fatty infiltration in the lower extremity were detected by Muscle magnetic resonance imaging (MRI) scans in four patients. MRI showed two AR patients showed more severe muscle involvement of the posterior compartment than those of the anterolateral compartment in the calf. One patient carrying Q38*/H256R variants accompanied with mild periventricular leukoaraiosis.

CONCLUSIONS:

In this study, we conducted an analysis of clinical features of the GDAP1-related CMT patients, expanded the mutation spectrum in GDAP1 by reporting two novel variants, and presented the prevalent occurrence of the H256R mutation in China. The screening of GDAP1 should be particularly emphasized in Chinese patients with CMT2, given the incomplete penetrance and pathogenic inheritance patterns involving dominant and recessive modes.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas del Tejido Nervioso Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteínas del Tejido Nervioso Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos