Unknown

Dataset Information

0

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

ABSTRACT: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].

SUBMITTER: Watanabe M 

PROVIDER: S-EPMC5023785 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

Watanabe Miki M   Nakagawa Ryuji R   Naruto Takuya T   Kohmoto Tomohiro T   Suga Ken-Ichi K   Goji Aya A   Kagami Shoji S   Masuda Kiyoshi K   Imoto Issei I  

Human genome variation 20160915

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutat  ...[more]

Similar Datasets

Unknown Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
| S-EPMC8172199 | biostudies-literature
Unknown A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome.
| S-EPMC7692662 | biostudies-literature
Unknown Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome.
| S-EPMC6157554 | biostudies-literature
Unknown Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
| S-EPMC3653713 | biostudies-literature
Unknown Ehlers-Danlos syndrome type IV.
| S-EPMC1971255 | biostudies-literature
Unknown A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
| S-EPMC8457703 | biostudies-literature
Unknown Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome.
| S-EPMC5363719 | biostudies-other
Unknown Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
| S-EPMC1288203 | biostudies-literature
Unknown Penile fracture in a patient with Ehlers-Danlos syndrome: A case report.
| S-EPMC6796720 | biostudies-literature
Unknown Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing.
| S-EPMC5364830 | biostudies-literature