3B Congenital Fibrosis of Extraocular Muscles

PROM mutation in KIF21A

Also Known As:

Fibrosis of Extraocular Muscles, Congenital, 3B; Blepharoptosis with Absent Eye Movements; CFEOM1; CFEOM3B; FEOM1; Fibrosis Of Extraocular Muscles, Congenital, 1; Ophthalmoplegia, Congenital

Networked: 13 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	congenital fibrosis of the extraocular muscles
2.	Disease Progression
3.	Oculomotor Nerve Diseases (Oculomotor Nerve Palsy)
4.	Ocular Motility Disorders (Convergence Insufficiency)

Experts

1.	Engle, Elizabeth C: 5 articles (04/2014 - 12/2003)
2.	Chan, Wai-Man: 3 articles (04/2014 - 12/2003)
3.	Desai, Jigar: 2 articles (04/2014 - 05/2012)
4.	Yamada, Koki: 2 articles (05/2012 - 12/2003)
5.	Andrews, Caroline: 2 articles (05/2007 - 12/2003)
6.	Hanisch, Frank: 2 articles (05/2007 - 12/2003)
7.	Traboulsi, Elias I: 2 articles (05/2007 - 12/2003)
8.	Demer, Joseph L: 2 articles (02/2005 - 12/2003)
9.	Chen, Huiqiong: 1 article (09/2017)
10.	Cheng, Lulu: 1 article (09/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 3B Congenital Fibrosis of Extraocular Muscles:

1.	KinesinsIBA 01/01/2016 - "Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations." 03/01/2008 - "The novel KIF21A mutation 84C>G demonstrated in a CFEOM1 family affects the kinesin motor domain, supporting that mutations may also occur outside the commonly involved coiled-coil domain. " 02/01/2005 - "Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit. " 09/01/2017 - "The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family.Three" 12/01/2011 - "Kinesin family member 21A (KIF21A) mutation is the most common cause for congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in populations worldwide. "
2.	Proteins (Proteins, Gene)FDA Link 05/01/2012 - "We previously identified that CFEOM1 results from heterozygous missense mutations in KIF21A, which encodes a kinesin motor protein. " 12/01/2003 - "We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. " 08/17/2005 - "Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a congenital, non-progressive autosomal-dominant disorder with bilateral oculomotor nerve palsy due to mutations in the kinesin motor protein gene KIF21A. "
3.	Protein Isoforms (Isoforms)IBA 05/01/2012 - "Multiple splice isoforms of KIF21A are identified in human fetal brain, but none of the reported CFEOM1 mutations are located in or near the alternatively spliced exons. "
4.	TubulinIBA 01/20/2011 - "Ophthalmic examination and candidate gene direct sequencing (KIF21A, paired-like homeobox 2A [PHOX2A], tubulin beta-3 [TUBB3]) of CFEOM1 patients from consanguineous families referred for counseling from 2005 to 2010. "
5.	SuspensionsIBA 03/01/2023 - "Patients with CFEOM1 who have ptosis may benefit from an innovative surgical procedure called modified levator muscle complex suspension."
6.	DNA (Deoxyribonucleic Acid)IBA 08/01/2003 - "DNA typing for linkage to the FEOM1 (12p11.2-q12) and FEOM3 (16qter) loci was performed on genomic DNA, using fluorescent microsatellite polymorphic markers. "
7.	Amino Acids FDA Link 05/18/2007 - "All three new mutations alter amino acids in heptad repeats within the third coiled-coil region of the KIF21A stalk, further highlighting the importance of alterations in this domain in the etiology of CFEOM1."
8.	microtubule-associated protein 1B (MAP5)IBA 04/16/2014 - "The interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton."
9.	triadinIBA 05/01/2012 - "KIF21A immunoreactivity is also observed in extraocular and skeletal muscle biopsies of control and CFEOM1 patients, where it co-localizes with triadin, a marker of the excitation-contractile coupling system. "

Therapies and Procedures

1.	Operative Surgical Procedures 03/01/2023 - "The clinical data, including ocular examinations, magnetic resonance imaging (MRI), and surgical procedures of affected individuals from 16 Chinese CFEOM1 families, were collected. " 03/01/2023 - "Patients with CFEOM1 who have ptosis may benefit from an innovative surgical procedure called modified levator muscle complex suspension."