Localization to Xq22 and clinical update of a family with X-linked recessive mental retardation with progression sensorineural deafness, progressive tapeto-retinal degeneration and dystonia

Journal Article · Fri Jul 15 04:00:00 EDT 1994 · American Journal of Medical Genetics

OSTI ID:62065

Tranebjaerg, L; Schwartz, C; Huggins, K; Barker, D; Stevenson, R; Arena, J F; Gedde-Dahl, T; Mikkelsen, M; Mellgren, S; Anderson, K ^[1]

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1. Greenwood Genetic Center, SC (United States)

In a reinvestigation of a six-generation Norwegian family, originally reported with non-syndromic X-linked recessive deafness by Mohr and Mageroy, we have demonstrated several syndromic manifestations. The 10 clinically characterized affected males range in age from 14-61 years, and show progressive mental deterioration and visual disability. Ophthalmological and electrophysiological studies showed myopia, decreased visual acuity, combined cone-rod dystrophy as well as central areolar dystrophy by means of ERG. Brain CT-scans showed cortical and central atrophy without predilection to specific areas. Linkage analysis, using X-chromosomal RFLPs and CA-repeats, yielded a maximum LOD score of 4.37 with linkage to DXS17. DXS17 is localized to Xq22. One recombinant with COL4A5 (deficient in Alport syndrome) was observed. Results from the studies of this family will be important in reclassification of non-syndromic X-linked deafness since the family now represents syndromic deafness and XLMR with a specific phenotype.

• OSTI ID: 62065
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 51; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENE RECOMBINATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MALES
MENTAL DISORDERS
NORWAY
PATIENTS
PHENOTYPE
RFLPS
SENSE ORGANS DISEASES
STATISTICAL MODELS