Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Am J Med Genet A
; 176(12): 2887-2891, 2018 12.
Article
en En
| MEDLINE
| ID: mdl-30450842
ABSTRACT
Stickler syndrome is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and skeletal abnormalities. The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the α3 chain of type IX procollagen. The clinical features were similar to the previously described COL9A3 Stickler syndrome family, including moderate to severe sensorineural hearing loss, high myopia, and both tibial and femoral bowing at birth. Radiographs demonstrated abnormal capital femoral epiphyses and mild irregularities of the vertebral endplates. This case further establishes the phenotype associated with mutations in this gene. We suggest that loss of the α3 chain of type IX collagen results in a Stickler syndrome phenotype similar to that of the other autosomal recessive forms caused by mutations in genes encoding the α1 and α2 chains of type IX collagen.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Artritis
/
Desprendimiento de Retina
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Enfermedades del Tejido Conjuntivo
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Colágeno Tipo IX
/
Genes Recesivos
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Pérdida Auditiva Sensorineural
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2018
Tipo del documento:
Article