Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency

Molecular Syndromology

Diane Africk¹  Dmitriy Niyazov¹ 

[1]Department of Pediatrics, Ochsner Clinic Foundation, New Orleans, La., USA

关键词: Charcot-Marie-Tooth disease type 2;    8q21.11 deletion;    GDAP1;    Mitochondrial dysfunction;   

DOI  :  10.1159/000440660

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Unbalanced chromosomal rearrangements typically cause multiple organ system involvement including neurodevelopmental deficits. It is atypical, however, to experience developmental and neurological regression. We describe a female with intellectual disability, failure to thrive, short stature, multiple congenital anomalies, and dysmorphic features and a previously diagnosed de novo 8q21.11 deletion at the age of 7. However, at the age of 11, she experienced neurological and developmental regression. The GDAP1 gene encoding ganglioside-induced differentiation-associated protein 1 was deleted in the patient as a part of the contiguous gene syndrome. We argue that haploinsufficiency of GDAP1 could have contributed to the proband's regression based on its involvement in mitochondrial function and a signal transduction pathway in neuronal development.

【 授权许可】

Unknown