A novel COMP mutation in a Chinese patient with pseudoachondroplasia.

[achondroplasia]

A 2 .75 -year -old Chinese boy presented with typical clinical features of pseudoachondroplasia , including disproportionate short-limb short stature , brachydactyly , genu varus and waddling gait . Radiologically , tubular bones were short with widened metaphyses , irregular and small epiphyses ; anterior tonguing or beaking of vertebral bodies were characteristic . DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c .1511 G >A , p .Cys 504 Tyr ) in the patient but his parents were unaffected without this genetic change . The missense mutation (c .1511 G >A ) was not found in 100 healthy controls and has not been reported previously . Our findings expand the spectrum of known mutations in COMP leading to pseudoachondroplasia .

Diseases
Validation

Diseases presenting "brachydactyly" symptom

achondroplasia

kabuki syndrome

pyruvate dehydrogenase deficiency

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