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

Abstract：

: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 byproduct of sulfotransferase reactions, to AMP. The mutations affected residues in or adjacent to the phosphatase active site and are predicted to impair enzyme activity. A fourth unrelated patient was subsequently found to be homozygous for a premature termination codon in IMPAD1. Impad1 inactivation in mice has previously been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation. The human chondrodysplasia associated with gPAPP deficiency joins a growing number of skeletoarticular conditions associated with defective synthesis of sulfated proteoglycans, highlighting the importance of proteoglycans in the development of skeletal elements and joints.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Vissers LE,Lausch E,Unger S,Campos-Xavier AB,Gilissen C,Rossi A,Del Rosario M,Venselaar H,Knoll U,Nampoothiri S,Nair M,Spranger J,Brunner HG,Bonafé L,Veltman JA,Zabel B,Superti-Furga A

doi

10.1016/j.ajhg.2011.04.002

subject

Has Abstract

pub_date

2011-05-13 00:00:00

pages

608-15

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(11)00143-1

journal_volume

88

pub_type

杂志文章

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