Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

doi:10.1016/j.ajhg.2011.04.002

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Article

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

American journal of human genetics - 13 May 2011

Vissers Lisenka E L M, Lausch Ekkehart, Unger Sheila, Campos-Xavier Ana Belinda, Gilissen Christian, Rossi Antonio, Del Rosario Marisol, Venselaar Hanka, Knoll Ute, Nampoothiri Sheela, Nair Mohandas, Spranger Jürgen, Brunner Han G, Bonafé Luisa, Veltman Joris A, Zabel Bernhard, Superti-Furga Andrea

Abstract excerpt

We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the...

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PMID: 21549340
DOI: 10.1016/j.ajhg.2011.04.002
PMCID: PMC3146727

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