A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

A. L SERTIE; M QUIMBY; E. S MOREIRA; J Murray; M ZATZ; S. E ANTONARAKIS; M. R PASSOS-BUENO

doi:10.1093/hmg/5.6.843

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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

A. L SERTIE, M QUIMBY, E. S MOREIRA, J Murray, M ZATZ, S. E ANTONARAKIS and M. R PASSOS-BUENO

Human molecular genetics, Vol.5(6), pp.843-848

1996

DOI: 10.1093/hmg/5.6.843

PMID: 8776601

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Abstract

Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM.

Ophthalmology

Biological and medical sciences

Medical sciences

Retinopathies

Details

Title: Subtitle: A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
Creators: A. L SERTIE - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
M QUIMBY - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
E. S MOREIRA - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
J Murray - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
M ZATZ - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
S. E ANTONARAKIS - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
M. R PASSOS-BUENO - Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.5(6), pp.843-848
DOI: 10.1093/hmg/5.6.843
PMID: 8776601
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press; Oxford
Language: English
Date published: 1996
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025346302771

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