DNA-dependent ATPase. May modulate chromosome segregation. (updated: Sept. 12, 2018)
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
No sequence conservation computed yet.
Total structural coverage: 0%
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The reference OMIM entry for this protein is 218600
Baller-gerold syndrome; bgs
Craniosynostosis with radial defects
Craniosynostosis-radial aplasia syndrome
A number sign (#) is used with this entry because of evidence that Baller-Gerold syndrome (BGS) is caused by homozygous or compound heterozygous mutation in the RECQL4 gene (603780) on chromosome 8p24.
CLINICAL FEATURES
Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS;
101400). The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990). Baller (1950) described a female with oxycephaly and absent radius. The parents were third cousins. Gerold (1959) described a brother and sister, aged 16 years and 2 days, with tower skull, radial aplasia, and slight ulnar hypoplasia. Pelias et al. (1981) observed parental consanguinity. Their patient also had bilateral conductive hearing loss; auditory deficit was not observed in earlier reported cases. The radial deficiency is not necessarily symmetric. In all cases the ulna is short and curved. Malformation or absence of some carpals and metacarpals, and absent or hypoplastic thumbs have been observed in some cases. The patients are almost always short. Skeletal anomalies of the spine and pelvis are frequent. Anteriorly placed anus and imperforate anus with either perineal fistula or rectovaginal fistula have been observed. Anomalies of the heart and urogenital system and mental and/or motor retardation have been noted in some patients. Boudreaux et al. (1990) reported the alleged eleventh case of Baller-Gerold syndrome; probable parental consanguinity supported autosomal recessive inheritance. Galea and Tolmie (1990) described a sporadic case. They pointed out that the published cases, still few in number, can be divided into those with craniosynostosis and radial defects alone and those with additional malformations. Their case was of the former type. They stated: 'Although the Baller-Gerold syndrome is allocated an asterisk in the autosomal recessive section of McKusick's catalogue, we are at present uncomfortable with the prospect of reassuring our proband that his own children have a negligible risk of being affected.' Because of possible genetic heterogeneity, their caution may be appropriate. The patient reported by Dallapiccola et al. (1992) had, in addition to the cranial and radial features, imperforate anus, rectovaginal fistula, prenatal growth deficiency, and mental retardation. Van Maldergem et al. (1992) described a newborn who lived only 2 hours and had extensive agenesis of the frontal and parietal bones resulting in a very large fontanel in addition to coronal bilateral craniosynostosis. Anterior placement of the anus and pancreatic islet cell hypertrophy were also noted. Lin et al. (1993) described 3 new cases, bringing the total number of reported cases to 20. Two of their patients were sibs. Ramos Fuentes et al. (1994) described unusually mild involvement in a 3-year-old boy with trigonocephaly and bilateral absent radii and thumbs. His growth and psychomotor development had been normal. No visceral anomalies were found. Ramos Fuentes et al. (1994) found reports of 21 cases in the 'Western literature.' In the 2 families studied by Van Maldergem et al. (2006) with mutations in the RECQL4 gene, affected individuals had craniosynostosis, radial defects, and growth retardation, and 2 developed poikiloderma. - Phenotypic Overlap Huson et al. (1990) described a patient with craniostenosis and radial aplasia which led to an initial dia ...
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Feb. 22, 2019: Protein entry updated
Automatic update: model status changed
Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 218600 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).