A novel c.287G>T

Asian People / genetics Blindness / congenital Child Eye Proteins / genetics Female Genetic Diseases, X-Linked / genetics Humans Infant Infant, Newborn Male Mutation, Missense Nerve Tissue Proteins / genetics Nervous System Diseases / genetics Pedigree Phenotype Retinal Degeneration / genetics Spasms, Infantile / genetics
Norrie disease c.287G>T microcornea microphthalmia

Journal

Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057

Informations de publication

Date de publication:
08 2020
Historique:
pubmed: 13 5 2020
medline: 22 6 2021
entrez: 13 5 2020
Statut: ppublish

Résumé

Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures. Norrie disease is caused by mutations in the A Chinese family with Norrie disease was studied, and clinical phenotypes of the proband were observed. With informed consent from the patients' family, blood samples from family members were collected, genomic DNA was extracted, and Sanger sequencing was performed to identify the disease-causing mutation. s The c.287 G > T of

Sections du résumé

BACKGROUND
Norrie disease is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment, and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures. Norrie disease is caused by mutations in the
MATERIALS AND METHODS
A Chinese family with Norrie disease was studied, and clinical phenotypes of the proband were observed. With informed consent from the patients' family, blood samples from family members were collected, genomic DNA was extracted, and Sanger sequencing was performed to identify the disease-causing mutation.
RE
s
CONCLUSION
The c.287 G > T of

Identifiants

DOI: 10.1080/13816810.2020.1759106 PMID: 32393149
pubmed: 32393149
doi: 10.1080/13816810.2020.1759106
doi:

Substances chimiques

Eye Proteins 0
NDP protein, human 0
Nerve Tissue Proteins 0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

338-340

Auteurs

Meina Lin (M)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Yongping Lu (Y)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Yu Sui (Y)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Xiang Ni (X)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Huan Li (H)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Xinren Chen (X)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Ning Zhao (N)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

Miao Jiang (M)

NHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University , Shenyang, China.

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Classifications MeSH

questionsmedicales.fr › Personnes › Asiatiques › A novel c.287G>T
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de la vision › Cécité › A novel c.287G>T
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A novel c.287G>T
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de l'oeil › A novel c.287G>T
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies génétiques liées au chromosome X › A novel c.287G>T
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel c.287G>T
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › A novel c.287G>T
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › A novel c.287G>T
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A novel c.287G>T
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › A novel c.287G>T
questionsmedicales.fr › Maladies du système nerveux › A novel c.287G>T
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › A novel c.287G>T
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A novel c.287G>T
questionsmedicales.fr › Maladies de l'oeil › Rétinopathies › Dégénérescence de la rétine › A novel c.287G>T
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Syndromes épileptiques › Spasmes infantiles › A novel c.287G>T