Arthrogryposis multiplex congenita

Definition:

Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental depends on the specific type. It has been reported that mutations in ERGIC1 cause AMC neuropathic type. ERGIC1 encodes a membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

References:

[1]. E Reinstein, et al. Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. Clin Genet. 2018 Jan;93(1):160-163. [Content Brief]

[2]. Esra Isik, et al. Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. Eur J Med Genet. 2019 Sep;62(9):103544. [Content Brief]

[3]. Lulu Ma, et al. Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. Front Med. 2017 Mar;11(1):48-52. [Content Brief]

[4]. Michal Feingold-Zadok, et al. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. Prenat Diagn. 2017 Feb;37(2):144-150. [Content Brief]

[5]. Mohammed Zain Seidahmed, et al. Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. Hum Genet. 2020 Apr;139(4):513-519. [Content Brief]

[6]. Ruben Attali, et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Sep 15;18(18):3462-9. [Content Brief]

[7]. Shifeng Xue, et al. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Am J Hum Genet. 2017 Apr 6;100(4):659-665. [Content Brief]

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