Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome
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چکیده
منابع مشابه
Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled ab...
متن کاملAssociation of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.
BACKGROUND The TECTA gene, which encodes alpha-tectorin, has recently been cloned. alpha-Tectorin is a major component of the noncollagenous matrix of the tectorial membrane. Nonsyndromic hearing impairment caused by TECTA mutations has been reported in Austrian, Belgian, Swedish, French, and Lebanese families. The phenotypes and genotypes were different among these families. MATERIALS AND ME...
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Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
متن کاملDiversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome
PURPOSE To determine the underlying genetic cause of Duane retraction syndrome (DRS) in a non-consanguineous Chinese Han family. METHODS Detailed ophthalmic and physical examinations were performed on all members from a pedigree with DRS. All exons and their adjacent splicing junctions of the sal-like 4 (SALL4) gene were amplified with polymerase chain reaction and analyzed with direct sequen...
متن کاملfrequency and clinical features of duane's retraction syndrome
purpose: to evaluate the clinical features of duane’s syndrome in patients who were referred to nikoo-kari eye centre, tabriz, as a referral centre of northwest of iran. methods: we retrospectively reviewed medical records of all patients with duane’s syndrome who were referred to the strabismus clinic of our center during a 5-year period (2002-2006). clinical and demographic characteristics we...
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ژورنال
عنوان ژورنال: Journal of American Association for Pediatric Ophthalmology and Strabismus
سال: 2009
ISSN: 1091-8531
DOI: 10.1016/j.jaapos.2009.03.007