A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Tükel, Turgut; Üzümcü, Abdullah; Gezer, Acun; Kayserili, Hülya; Yüksel‐Apak, Memnune; Uyguner, Zehra Oya; Sh, Gultekin; Hennies, HC; Nürnberg, Peter; Rj, Desnick; Wollnik, Bernd

doi:10.1136/jmg.2004.026138

Cited by 26 publications

(12 citation statements)

References 26 publications

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“…60 Additional autosomal recessive forms of CFEOM also appear to exist. A consanguineous Turkish family with autosomal recessive transmission of a unilateral, non-progressive ophthalmoplegia and hand abnormalities mapped to chromosome 21; 61 however, forced ductions were reportedly normal in this family, suggesting an atypical presentation for a CFEOM. In one Lebanese family, affected members had unilateral ptosis and restrictive strabismus but were found to have no identifiable linkage to the CFEOM1, -2, or -3 locus and had no mutation in KIF21A or PHOX2A genes.…”

Section: Methodsmentioning

confidence: 63%

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Graeber

Hunter

Engle

2013

Seminars in Ophthalmology

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In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).

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Section: Methodsmentioning

confidence: 63%

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Graeber

Hunter

Engle

2013

Seminars in Ophthalmology

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“…60 Moreover, 1 individual with CFEOM3C presented systemic findings such as facial dysmorphisms, kyphosis, pectus excavatum, developmental delay, and motor regression. 52 Three genes are known to cause CFEOM: KIF21A, PHOX2A, and TUBB3. KIF21A mutations are associated with most familial and simplex CFEOM1.…”

Section: Imaging Findingsmentioning

confidence: 99%

Imaging Findings in Congenital Cranial Dysinnervation Disorders

Ferreira

Amaral²,

Gonçalves³

et al. 2011

Topics in Magnetic Resonance Imaging

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In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

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“…Mutations in the TUBB3 gene (OMIM 602661) on the chromosome 16q24 and KIF21A gene on chromosome 12q12 are responsible for CFEOM3A and CFEOM3B, respectively. [ 4 ] The causative gene for CFEOM3C maps to chromosome 13q. CFEOM4, also known as the Tukel syndrome, its causative gene was mapped to chromosome 21q22.…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1

et al. 2017

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The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family.Three affected individuals and 2 asymptomatic kinsfolk from a Chinese family underwent comprehensive ophthalmic examinations, orbital computerized tomography (CT), and postoperative histological examinations were performed in the proband. All the recruited members were screened for 3 exons (8, 20, and 21) of KIF21A mutations using the polymerase chain reaction (PCR) amplification and direct sequencing of corresponding PCR products.All patients shared the clinical characteristics including bilateral ophthalmoplegia, blepharoptosis, hypertropic, and exotropic position with inability to raise either eye above the midline and a chin-up head position. Direct DNA sequence analysis from the affected members revealed a missense mutation in KIF21A (c.2860C>T, p.R954W). The unaffected members did not harbor the p.R954W mutation. The candidate mutation was not present in multiple web-accessible and in-house exome databases.The p.Arg954Trp mutation of KIF21A was the causative mutation in this Chinese pedigree with CFEOM1.

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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Cited by 26 publications

References 26 publications

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Imaging Findings in Congenital Cranial Dysinnervation Disorders

Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1

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