X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly

W Lane; M Robson; R B Lowry; A K Leung

doi:10.1111/j.1399-0004.1994.tb04039.x

X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly

Clin Genet. 1994 Jun;45(6):314-7. doi: 10.1111/j.1399-0004.1994.tb04039.x.

Authors

W Lane¹, M Robson, R B Lowry, A K Leung

Affiliation

¹ Children's Hospital, Greenville Hospital System, South Carolina 29605-4253.

PMID: 7923864
DOI: 10.1111/j.1399-0004.1994.tb04039.x

Abstract

A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-linked recessive inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.

Publication types

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

MeSH terms

Genes, Recessive*
Genetic Linkage
Glomerulonephritis / microbiology
Hearing Loss, Sensorineural / genetics
Humans
Infant, Newborn
Intellectual Disability / etiology
Intellectual Disability / genetics*
Male
Nephritis, Hereditary / complications
Nephritis, Hereditary / genetics*
Skull / abnormalities
Streptococcal Infections / complications
Streptococcus pyogenes
X Chromosome / genetics*