Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1

Chen, Huiqiong; Liu, Tangbing; Zeng, Zhenhai; Wang, Yufei; Lin, Yanjie; Cheng, Lulu; Pan, Qintuo; Gu, Feng; Song, Zongming; Zhang, Zongduan

doi:10.1097/md.0000000000008068

Cited by 5 publications

(3 citation statements)

References 14 publications

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“…The first model is family inheritance. Traditional handicraft families rely on their skills to support their families and conduct business, and they regard their unique skills as the basis for their survival [22]. Arts and crafts, commonly known as handicraft businesses, are one of the popular forms of family business [18].…”

Section: Family Inheritance Of Traditional Handicraftsmentioning

confidence: 99%

“…When the apprentice decides to learn from the master, the master usually judges the apprentice's ability to see if he or she could learn the master's core skills. If the apprentice is judged to be able, the master will take the apprentice as his or her own child to cultivate their skills and become dedicated to educating the apprentice [22]. Scholars have conducted many qualitative and quantitative studies on the influence and utility of mentoring relationships on apprentices, masters, and enterprise organizations.…”

Section: Master-apprentice Inheritance Of Traditional Handicraftsmentioning

confidence: 99%

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Inheritance Patterns under Cultural Ecology Theory for the Sustainable Development of Traditional Handicrafts

2022

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Culture is the fourth pillar of sustainable development. The protection of intangible cultural heritage is an important way to safeguard the transmission of intangible heritage across generations. With the help of cultural ecology theory, this paper compares cases of inheritance and development in two different handicrafts: Bai tie-dyeing and Beijing carved lacquer. The results show that under the influence of different cultural ecologies, the family inheritance pattern of Bai tie-dyeing, and the master–apprentice inheritance pattern of Beijing carved lacquer have undergone qualitative changes in modern society. This paper puts forward the distinction between representative inheritance and group inheritance and suggests a protection mechanism accordingly. This paper further suggests that a modern mentoring model should be promoted as the inheritance pattern to further aid handicraft development, and a clear division of economic interests is also appointed to apply with the premiumization development and mass development.

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Section: Family Inheritance Of Traditional Handicraftsmentioning

confidence: 99%

Section: Master-apprentice Inheritance Of Traditional Handicraftsmentioning

confidence: 99%

Inheritance Patterns under Cultural Ecology Theory for the Sustainable Development of Traditional Handicrafts

2022

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“…21 CFEOM2 is caused by the mutations in the ARIX gene (OMIM 602753) on chromosome 11q13.4. However, the clinical manifestations of patients in families with CFEOM3 are similar to those with CFEOM1, 22 where CFEOM3 can be diagnosed even if no patients exhibit the classical clinical signs, and KIF21A mutations can also be associated with CFEOM3.…”

Section: Introductionmentioning

confidence: 99%

A loss of function mutation in the filaggrin gene associated with ichthyosis vulgaris and rheumatoid arthritis

Xu¹,

Ma²,

Mei³

et al. 2021

Eur J Inflamm

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Introduction Mutations in the filaggrin ( FLG) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology to investigate the genetic causes of rare and complex inherited diseases including rheumatoid arthritis, ichthyosis, and congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in a Chinese family. WGS was performed in four topics, and the identified candidate mutations were further verified through Sanger sequencing. Results We identified a mutation in FLG gene (g.152280098 C>A, p.E2422∗) that may be associated with ichthyosis and arthritis. Moreover, a mutation in KIF21A (g.39726207 G>A, p.R954 W) was also determined in affected members as the cause of CFEOM1. The gene interaction network demonstrated an interesting correlation between FLG and genes associated with arthritis and ichthyosis. Functional enrichment analysis of these interacting genes revealed several possible pathways that might be linked to arthritis and ichthyosis. Conclusion In general, we confirmed a loss of function mutation in the FLG gene associated with ichthyosis vulgaris and rheumatoid arthritis in this family.

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Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families

Chen

Huang

Zhang

et al. 2022

Graefes Arch Clin Exp Ophthalmol

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Purpose Congenital fibrosis of extraocular muscles type 1 (CFEOM1), a classical subtype of CFEOM, is characterized by restrictive ophthalmoplegia and ptosis. It is mainly caused by aberrant neural innervation of the extraocular muscles. This study aimed to investigate the genetic characteristics and clinical manifestations of CFEOM1 in Chinese families. Methods The clinical data, including ocular examinations, magnetic resonance imaging (MRI), and surgical procedures of affected individuals from 16 Chinese CFEOM1 families, were collected. The genomic DNA of 16 probands and their family members were sequenced for causative KIF21A gene mutations. Linkage analysis using microsatellite markers across KIF21A was also conducted. Results Affected individuals were presented with bilateral non-progressive ptosis, restricted horizontal eye movement, fixed infraduction of both eyes, compensatory chin-up head position, and neuromuscular abnormalities. Three heterozygous KIF21A mutations, c.2860C > T (p.R954W) (in eight families), c.2861G > T (p.R954L) (in two families), and c.2861G > A (p.R954Q) (in two families) were identified, which implied that hotspot mutations were common in Chinese CFEOM1 families. Germline Mosaicism was likely to be the cause of affected individuals with asymptomatic parents without KIF21A mutations presented in the eight families. Two affected individuals underwent modified levator muscle complex suspension surgery and achieved a good result without any complications. Conclusion Instead of evaluating the whole CFEOM1 gene variant, hotspot mutations could be given priority for screening. The occurrence of germline mosaicism has to be taken into account in genetic counseling. Patients with CFEOM1 who have ptosis may benefit from an innovative surgical procedure called modified levator muscle complex suspension.

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Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1

Cited by 5 publications

References 14 publications

Inheritance Patterns under Cultural Ecology Theory for the Sustainable Development of Traditional Handicrafts

Inheritance Patterns under Cultural Ecology Theory for the Sustainable Development of Traditional Handicrafts

A loss of function mutation in the filaggrin gene associated with ichthyosis vulgaris and rheumatoid arthritis

Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families

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