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• W2046287830 abstract "The Duane retraction “syndrome” (DURS) (OMIM 126800) accounts for about 1% of all cases of strabismus [Kirkham, 1970; Gurwood and Terrigno, 2000]. It is also known as “Duane anomaly,” as the condition is not a syndrome in the strict genetical sense of the term. Prior to Duane's description in 1905, DURS had been described by Stilling in 1887 and Turk in 1896, and it is therefore also known as Stilling–Türk–Duane retraction syndrome [Mitchell and Parks, 2002]. The most characteristic clinical presentation of DURS is an absence of abduction of an eye with some degree of restricted adduction and retraction when an attempt is made to adduct [Hoyt and Nachtigaller, 1965; Cross and Pfaffenbach, 1972; Isenberg and Urist, 1977; Gurwood and Terrigno, 2000; Mitchell and Parks, 2002; Siatkowski and Glaser, 2002]. Electromyographic studies [Blodi, 1970; Strachan and Brown, 1972; Huber, 1974] revealed a paradoxical innervation pattern of the lateral rectus muscle as the pathological mechanism in all forms of DURS. Three types of DURS are recognized depending on the amount of aberrant innervation present [Huber, 1974]. DURS type I consists of defective abduction with normal or minimally defective adduction, whereas in type II adduction is defective and abduction is relatively normal. Both abduction and adduction are defective in type III. Type assignment can be difficult [Raab, 1986]. Approximately 90% of DURS [Kirkham, 1970; Siatkowski and Glaser, 2002] are sporadic cases, but up to 10% are familial, most commonly autosomal dominant without associated abnormalities [O'Hara and Nelson, 1992; Evans et al., 2000]. Loci for DURS have been mapped to chromosomes 2 [Appukuttan et al., 1999; Evans et al., 2000], 4 [Chew et al., 1995], 8 [Vincent et al., 1994; Rickard et al., 2001], 16 [Kohlhase et al., 1999a], and 22 [Cullen et al., 1993]. A gene on chromosome 8 accounting for DURS was published [Pizzuti et al., 2002]. Mutations of the SALL4 gene on chromosome 20 have been found recently in 12 families with the autosomal-dominantly inherited Okihiro syndrome, a condition where DURS is associated with radial forearm malformations (OMIM 607323) [Al Baradie et al., 2002; Kohlhase et al., 2002a, 2003]. The aim of this study was to investigate if SALL4 mutations also contribute to isolated sporadic forms of DURS. Twenty-five patients with nonfamilial DURS were selected for the study. Of 20 patients, 36 parental samples were available for control purposes. The patients were aged between 1 and 75 years and 18 patients were children younger than 15 years. Sixteen patients were female, nine male. Patients and parents were also interviewed concerning associated findings. Informed consent was obtained according to the Declaration of Helsinki and the study was approved by the local Institutional Ethical Committee. DNA was prepared from peripheral lymphocytes, and subsequently, the complete coding region of the SALL4 gene (four coding exons) of the patients was PCR amplified and amplicons were sequenced directly with internal primers as described previously [Kohlhase et al., 2002a]. In 18 patients, the DURS affected the left eye, in four the right eye, and was bilateral in three patients. In all patients, reduced ocular motility was noticed since birth or within the first months of life. The amount of possible abduction ranged from 25° over midline to 5° before midline but was less than 5° over midline in 72% of patients. A compensatory turn of the head ranged from 0 to 20° and was 10° or more in six patients. A clinical example of a patient is shown in Figure 1. DURS left eye: reduced abduction; retraction, and narrowing of the lid fissure on adduction. No hearing impairment or malformations of the upper limbs were noticed. In addition to DURS, one patient had fused vertebrae of the cervical spine. A 13-year-old girl had a rod–cone-dystrophy. No mutation in the coding region or the neighboring intronic regions of the SALL4 gene could be detected in the patients. DURS occurs more frequently in female than in male patients with percentages in different studies [Kirkham, 1970; Pfaffenbach et al., 1972; Isenberg and Urist, 1977; O'Malley et al., 1982; Raab, 1986] ranging from 57 to 65% females, compared to 64% in this study. The left eye was involved in 60–67% compared to 72% in this study. There was bilateral involvement in 16–19% compared to 12%. Several associated ocular and systemic conditions have been described in patients with DURS, most commonly involving the external ear, hearing dysfunction, spinal and vertebral anomalies, renal malformations, and variable degrees of upper limb hypoplasia [Kirkham, 1970; Cross and Pfaffenbach, 1972; Pfaffenbach et al., 1972; Mitchell and Parks, 2002]. In the patients of this study no hearing dysfunction was reported, but perhaps formal audiological testing could have shown deficits in some of the patients. One patient had a malformation of the vertebral column. One girl had rod–cone-dystrophy which until now has not been reported in association with DURS: coincidence cannot be ruled out. The SALL genes (SALL1, SALL2, SALL3, and SALL4) encode zinc finger transcription factors which presumably have large influence during human embryogenesis [Kohlhase et al., 1996, 1999b, 2002b]. SALL1–3 expression has been detected in the developing human brain, and such expression is expected for SALL4 since the murine homolog SALL4 shows strong expression in the developing nervous system [Kohlhase et al., 2002b]. Our study shows that in patients with isolated sporadic DURS no mutations in the SALL4 gene could be detected as opposed to the findings in Okihiro syndrome. Therefore, SALL4 mutations do not contribute, at least to a large extent, to sporadic DURS and the underlying factors of isolated DURS are in most cases probably different from those in Okihiro syndrome. However, Okihiro syndrome, like other autosomal dominant malformation syndromes, shows marked intra- and interfamilial variability, suggesting that in rare cases of isolated DURS, a causative SALL4 mutation may be found. Still, our results suggest that SALL4 mutation analysis is not recommended in sporadic DURS, but careful clinical evaluation of the hands, the ears, the heart, and the kidney is required to exclude Okihiro syndrome, which may also present in sporadic cases. We thank M. Liebers for expert technical assistance." @default.
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• W2046287830 title "No evidence of SALL4-mutations in isolated sporadic duane retraction ?syndrome? (DURS)" @default.
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