A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

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Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome

PURPOSE To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. METHODS A total of 16 Chinese probands with Stickler syndrome were recruited, including nine with a family history of an autosomal dominant pattern and seven sporadic cases. All patients underwent full ocular and systemic examinati...

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Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family.   Case Report: The...

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Identification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.

Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...

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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gen...

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ژورنال

عنوان ژورنال: Human Genome Variation

سال: 2015

ISSN: 2054-345X

DOI: 10.1038/hgv.2015.43