Dataset Information

Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model.

ABSTRACT: Saul-Wilson Syndrome is an ultra-rare skeletal syndrome caused by a mutation in the COG4 gene resulting in a glycine-to-arginine substitution at amino acid position 516. The COG4 gene encodes one of 8 subunits of the conserved oligomeric Golgi complex. Using CRISPR-Cas9, our lab generated a C. elegans model for Saul-Wilson Syndrome by recreating the same glycine-to-arginine substitution in the worm ortholog cogc-4. Upon observation, the cogc-4(av107) worms did not display any obvious differences compared to wild-type worms. We used a variety of assays including stressing the worms using heat and Paraquat, as well as RNAi against the 7 other COG complex subunit genes in an attempt to uncover a phenotype. Our data suggest that this mutation in cogc-4(av107) worms does not lead to a detectable phenotype. Further studies should aim at more directly assessing Golgi function in this disease model.

SUBMITTER: Zafra I

PROVIDER: S-EPMC7933980 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model.

Zafra Isabella I Nebenfuehr Benjamin B Golden Andy A

microPublication biology 20210304

Saul-Wilson Syndrome is an ultra-rare skeletal syndrome caused by a mutation in the COG4 gene resulting in a glycine-to-arginine substitution at amino acid position 516. The COG4 gene encodes one of 8 subunits of the conserved oligomeric Golgi complex. Using CRISPR-Cas9, our lab generated a C. elegans model for Saul-Wilson Syndrome by recreating the same glycine-to-arginine substitution in the worm ortholog cogc-4. Upon observation, the cogc-4(av107) worms did not display an ...[more]

PMID: 33688625

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Project description:Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical investigation with intervention of several specialists (including neonatologists and pediatricians). Psychomotor development is delayed in all patients, therefore rehabilitation (physical therapy, psychomotor and speech therapy) should be started as soon as possible.

Dataset Information

Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a C. elegans Model.

Publications

Saul-Wilson Syndrome Missense Allele Does Not Show Obvious Golgi Defects in a <i>C. elegans</i> Model.

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