Asset Details
Do you wish to reserve the book?
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Do you wish to request the book?
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
2017
Overview
Background
Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the
COL2A1
,
COL11A1
, and
COL11A2
procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a
COL11A1
mutation, has clinical overlap with Stickler syndrome.
Case presentation
A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, −2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in
COL11A1
. At 8 years old, his height was 116.2 cm (−1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the
COL2A1
gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp).
Conclusions
In this case report, we identify a novel missense mutation in the
COL2A1
gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.
Publisher
BioMed Central,BioMed Central Ltd,BMC
Subject
/ Child
/ COL2A1
/ Collagen Type XI - deficiency
/ Connective Tissue Diseases - complications
/ Connective Tissue Diseases - diagnosis
/ Connective Tissue Diseases - genetics
/ Craniofacial Abnormalities - diagnosis
/ Hearing Loss, Sensorineural - complications
/ Hearing Loss, Sensorineural - diagnosis
/ Hearing Loss, Sensorineural - genetics
/ Humans
/ Male
/ Medicine
/ Mutation
/ Osteochondrodysplasias - diagnosis
/ Osteochondrodysplasias - etiology
/ Osteochondrodysplasias - genetics
/ Palate, Soft - abnormalities
/ Retinal Detachment - complications
/ Retinal Detachment - diagnosis
