Autosomal and X-Linked Auditory Disorders - Genetics of Auditory Disorders - page 172

TABLE 6.5. Continued
Inheritance

Locus Gene Auditory Mouse Selected

Syndrome and Location Symbol Gene Product Function Phenotype Associated Pathology Model References

Niemann-Pick AR; NPC/ Similarity to Regulation Progressive Progressive neurologic Sphingomyelinosis, Carstea et al. 1997;

disease, Type C 18q11-q12 NPC1 transmembrane of intra- SNHL deterioration due to spm Loftus et al. 1997

domains, cellular sphingomyelin

cholesterol- cholesterol accumulation

sensing regions trafficking

Noonan syndrome AD; NS1 Unknown Unknown Progressive Skeletal, craniofacial, Jamieson et al. 1994

12q24 SNHL or heart anomalies; mild

MHL mental retardation;

hematologic
abnormalities;
lymphangiomas,
schwannomas

Norrie disease XLR; ND/NDP Homology to role in Progressive Congenital or progressive NDP -/- Berger et al. 1992;

Xp11.4 mucins neuroectoder- SNHL blindness; mental knock-out Chen et al. 1992;

mal cell-cell (cochlear) deficiency Meindl et al. 1992;

interactions? Berger et al. 1996

Ocular albinism Xp22.3 OASD Unknown Unknown Late-onset Ocular albinism Winship et al.

with sensorineural progressive 1993

deafness SNHL

Orofaciodigital XLD; OFD1 Unknown Unknown Occas CHL Midfacial clefting; X-linked Sweet and Lane 1980;

syndrome, Type 1 Xp22.3- hyperplasia of oral cavity polydactyly, Feather et al. 1997

p22.2 frenula; cleft tongue; Xpl

hand anomalies;
polycystic kidneys

Osteogenesis AD (AR); OI/ Collagen a1(I) Fibrillar Progressive Brittle and deformed Mov-13, Bonadio et al. 1990;

imperfecta,Type I, 17q21.31- COL1A1 collagen- CHL or bones, hyperextensible retroviral Byers 1993; Pereira

Type II, Type III, q22.05 bone, MHL joints; blue sclerae insertion into et al. 1993

Type IV tendon, skin col1a1 ;

Transgenic
internal
deletion of
COL1A1