Two novel biallelic variants in TECPR2 and FA2H genes causing complicated hereditary spastic paraplegia in Iranian families from Lur ethnicity: Case series

Clinical Case Reports

Kourosh Hayatigolkhatmi¹  Soheila Akbari²  Hamidreza Khodadadi³  Masoud Edizadeh³  Rezvan Pakmanesh³  Maryam Salehirad³  Negar Chegeninejad³  Shokoufeh Ahmadipour⁴ 

[1] Department of Experimental Oncology European Institute of Oncology (IEO) IRCCS Milan Italy;Department of Gynecology and Obstetrics School of Medicine Lorestan University of Medical Sciences Khorramabad Iran;Madar Medical Genetics Center Khorramabad Iran;Pediatric Department School of Medicine Lorestan University of Medical Sciences Khorramabad Iran;

关键词: developmental delay;    FA2H;    spastic paraplegia;    TECPR2;    whole‐exome sequencing;   

DOI  :  10.1002/ccr3.4293

来源: DOAJ

【 摘 要 】

Abstract We herein report first Iranian families with spastic paraplegia 35 and 49 and claim that TECPR2 gene causes complicated spastic paraplegia 49 with or without sensory autonomic neuropathy. In addition, we show how coexistence of SPG49 and griscelli syndrome can lead to misdiagnosis.

【 授权许可】

Unknown