A novel <i>C2orf37</i> mutation causes the first Italian cases of Woodhouse Sakati syndrome

Steindl, Katharina; Alazami, Anas M.; Bhatia, Kailash P.; Wuerfel, Jens; Petersen, David; Cartolari, R.; Neri, Giovanni; Klein, Christine; Mongiardo, B; Alkuraya, Fowzan S.; Schneider, Susanne A.

doi:10.1111/j.1399-0004.2010.01447.x

Cited by 29 publications

(37 citation statements)

References 8 publications

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“…Edentulism, a condition of being toothless, was observed only in two affected females (IV-1, IV-2) of the present family. Apart from one report which described the presence of anodontia (Steindl et al, 2010), dental anomalies have not been reported in any other case of WSS. The extra-pyramidal manifestations observed in three affected individuals of the present family present chreoathetoid and dystonic movements leading to walking and gait disturbance.…”

Section: Discussionmentioning

confidence: 87%

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A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

Habib

Basit

Khan

et al. 2011

Gene

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Section: Discussionmentioning

confidence: 87%

“…3). Up till now eight different diseasecausing mutations including three deletions, three nonsense and two splicing errors have been reported in the gene C2orf37 (Alazami et al, 2008(Alazami et al, , 2010Steindl et al, 2010). All of these mutations lead to protein truncations.…”

Section: Discussionmentioning

confidence: 99%

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

Habib

Basit

Khan

et al. 2011

Gene

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“…Taking into account all known variants (Fig. 1C), the full mutational spectrum covers almost the entire coding region, from a frameshift deletion in exon 1 to ablation of the exon 13 splice donor site (4), yet the severity of the associated phenotypes do not correlate with the expected length of the resultant protein. This lack of correlation suggests that the presence of an intact, full‐length protein is necessary for functionality, with the protein being sensitive to the disruption of even a few amino acids from its tail end.…”

Section: Discussionmentioning

confidence: 99%

“…Recently our group utilized linkage analysis coupled with DNA sequencing to reveal that mutations in C2orf37 are the genetic basis for the disease phenotype (4). A founder mutation, confirmed by haplotype analysis, was present in all affected individuals from eight unrelated Saudi families, while other ethnicities exhibited their own private mutations.…”

Section: Introductionmentioning

confidence: 99%

C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

et al. 2010

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Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum of this disorder. Genetic analysis revealed a novel mutation in each of the four families investigated, of which three were nonsense mutations and the fourth was a splice site ablation. We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. The lack of correlation between clinically expressivity of WSS and the site of the eight truncating mutations strongly supports that they are equally null, while the intrafamilial variability argues for an important role of modifiers in this disease.

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“…In spite of being rare, Woodhouse syndrome should be considered in patients presenting with combinations of neuropsychological, endocrinal, and ectodermal manifestations, especially in the Middle East and Arab world. To date, only few dozens of families were reported to have the disease, especially in Saudi Arabia [5,6,11], Pakistan [12], Tunisia [9], Turkey [13], Croatia [14], India [15], and Italy [16]. The cases reported have various clinical, phenotypic, and genotypic patterns.…”

Section: Discussionmentioning

confidence: 99%

Woodhouse-Sakati Syndrome With Psychosis and Basal Ganglia Calcification: A Case Report

2018

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Woodhouse Sakati syndrome is a rare autosomal recessive multisystem disorder characterized by neuropsychological, endocrinal, and ectodermal symptoms. We report a 52-year-old Saudi female with psychosis, extrapyramidal signs, sensorineural hearing loss, diabetes, hypothyroidism, amenorrhea, hypergonadotropic hypogonadism, absence of secondary sexual characters, and alopecia totalis. Her brain computed tomography (CT) showed bilateral basal ganglia calcification and her genetic testing confirmed homozygous single nucleotide deletion (C.436delC) of frameshift mutation (p.A147HfsX9) in exon 4 of the gene DCAF17 gene. Woodhouse Sakati syndrome seems to be more prevalent, and probably underdiagnosed, in the Middle East and Arab countries, and should be considered in patients with a combination of neurological and endocrinal dysfunction. To our knowledge, this is the first case reported to have psychotic symptoms.

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A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

Cited by 29 publications

References 8 publications

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

Woodhouse-Sakati Syndrome With Psychosis and Basal Ganglia Calcification: A Case Report

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