A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda

In recent years, the number of individuals with dwarfism participating in sports and physical activities has increased. The Dwarf Athletic Association of America (DAAA) has grown from 30 athletes in 1985 to over 600 in 1994. This paper details the structural, intellectual, motor, orthopedic, and medical characteristics of six types of dwarfism (achondroplasia, hypochon-droplasia, cartilage-hair hypoplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia tarda, and spondyloepiphyseal dysplasia congenita) seen in individuals currently participating in eight DAAA-sanctioned sports. Implications and modifications for participation in physical activity, physical education, and sport are included.

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A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ◽

10.1016/s0027-5107(02)00315-9 ◽

2003 ◽

Vol 525 (1-2) ◽

pp. 61-65 ◽

Cited By ~ 5

Author(s):

Cuiying Xiao ◽

Sizhong Zhang ◽

Jun Wang ◽

Weimin Qiu ◽

Leiting Chi ◽

...

Keyword(s):

Chinese Family ◽

Single Nucleotide ◽

Single Nucleotide Deletion ◽

Nucleotide Deletion ◽

Spondyloepiphyseal Dysplasia ◽

Spondyloepiphyseal Dysplasia Tarda

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A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family

BMC Medical Genetics ◽

10.1186/s12881-020-01052-8 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Cai Zhang ◽

Caiqi Du ◽

Juan Ye ◽

Feng Ye ◽

Renfa Wang ◽

...

Keyword(s):

Chinese Family ◽

Deletion Variant ◽

Spondyloepiphyseal Dysplasia ◽

Spondyloepiphyseal Dysplasia Tarda

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Crystal Structure of SEDL and Its Implications for a Genetic Disease Spondyloepiphyseal Dysplasia Tarda

Journal of Biological Chemistry ◽

10.1074/jbc.m207436200 ◽

2002 ◽

Vol 277 (51) ◽

pp. 49863-49869 ◽

Cited By ~ 57

Author(s):

Se Bok Jang ◽

Yeon-Gil Kim ◽

Yong-Soon Cho ◽

Pann-Ghill Suh ◽

Kyung-Hwa Kim ◽

...

Keyword(s):

Protein Interactions ◽

Genetic Disease ◽

Point Mutations ◽

Missense Mutations ◽

Protein Protein Interactions ◽

Spondyloepiphyseal Dysplasia ◽

Multiple Protein ◽

Protein Particle ◽

Eukaryotic Organisms ◽

Spondyloepiphyseal Dysplasia Tarda

SEDL is an evolutionarily highly conserved protein in eukaryotic organisms. Deletions or point mutations in theSEDLgene are responsible for the genetic disease spondyloepiphyseal dysplasia tarda (SEDT), an X-linked skeletal disorder. SEDL has been identified as a component of the transport protein particle (TRAPP), critically involved in endoplasmic reticulum-to-Golgi vesicle transport. Herein, we report the 2.4 Å resolution structure of SEDL, which reveals an unexpected similarity to the structures of the N-terminal regulatory domain of two SNAREs, Ykt6p and Sec22b, despite no sequence homology to these proteins. The similarity and the presence of unusually many solvent-exposed apolar residues of SEDL suggest that it serves regulatory and/or adaptor functions through multiple protein-protein interactions. Of the four known missense mutations responsible for SEDT, three mutations (S73L, F83S, V130D) map to the protein interior, where the mutations would disrupt the structure, and the fourth (D47Y) on a surface at which the mutation may abrogate functional interactions with a partner protein.

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Corneal Changes in Spondyloepiphyseal Dysplasia Tarda

Japanese Journal of Ophthalmology ◽

10.1016/s0021-5155(99)00146-x ◽

2000 ◽

Vol 44 (1) ◽

pp. 29-32 ◽

Cited By ~ 3

Author(s):

Y Hirata

Keyword(s):

Spondyloepiphyseal Dysplasia ◽

Spondyloepiphyseal Dysplasia Tarda

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