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FB2026_03
,
released September 17, 2026
This report describes Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDS-SPD1), which is a subtype of Ehlers-Danlos syndrome. EDS-SPD1 exhibits autosomal recessive inheritance. The human gene implicated in this disease is beta-1,4-galactosyltransferase 7 (B4GALT7), which is required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. There is a single orthologous gene in Drosophila, Dmel\β4GalT7, for which multiple expression-modulating constructs, including RNAi-targeting constructs, an over-expression construct, and a CRISPR-based TKO construct, have been generated.
The human B4GALT7 gene has not been introduced into flies.
The human and fly genes are highly homologous, especially within the catalytic domain. Determination of the crystal structure of the catalytic domain of the Drosophila β4GalT7 protein has allowed a structure-based explanation for the mutations in human B4GALT7 that have been linked to Ehlers-Danlos syndrome.
[updated Aug. 2020 by FlyBase; FBrf0222196]
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications. [Genetics Home Reference, Ehlers-Danlos syndrome; 2020.08.25]
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, easily bruised skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). The current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al., 2017; pubmed:28306229), which recognizes 13 EDS subtypes. [from MIM:130000; 2020.08.25]
[EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1](https://omim.org/entry/130070)
[BETA-1,4-GALACTOSYLTRANSFERASE 7; B4GALT7](https://omim.org/entry/604327)
Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013; pubmed:23956117). [from MIM:130070; 2020.08.25]
Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is caused by homozygous or compound heterozygous mutation in the B4GALT7 gene. [from MIM:130070; 2020.08.25]
Members of the beta-1,4-galactosyltransferase family encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. B4GALT7 is required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
One to one: 1 human gene to 1 Drosophila gene.
High-scoring ortholog of human B4GALT7 (1 Drosophila to 1 human). Dmel\β4GalT7 shares 49% identity and 65% similarity with the human gene.