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Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
Natl Inst Biotechnol & Genet Engn NIBGE, Hlth Biotechnol Div, Human Mol Genet Lab, Faisalabad, Pakistan..
Natl Inst Biotechnol & Genet Engn NIBGE, Hlth Biotechnol Div, Human Mol Genet Lab, Faisalabad, Pakistan..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
Natl Inst Biotechnol & Genet Engn NIBGE, Hlth Biotechnol Div, Human Mol Genet Lab, Faisalabad, Pakistan..
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2018 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 93, no 1, p. 182-186Article in journal (Refereed) Published
Abstract [en]

The phenotypic spectrum associated with heterozygous mutations in cartilage oligomeric matrix protein gene (COMP) range from a mild form of multiple epiphyseal dysplasia (MED) to pseudoachondroplasia (PSACH). However, the phenotypic effect from biallelic COMP variants is unclear. We investigated a large consanguineous Pakistani family with a severe form of PSACH in 2 individuals. Another 14 family members presented with a mild PSACH phenotype similar to MED. Using exome sequencing and subsequent segregation analysis, we identified homozygosity for a COMP missense variant [c.1423G>A; p.(D475N)] in the 2 severely affected individuals, whereas family members with the mild PSACH phenotype were heterozygous. Our observations show for the first time that a biallelic COMP variant may be associated with pronounced and widespread skeletal malformations suggesting an additive effect of the 2 mutated alleles.

Place, publisher, year, edition, pages
WILEY , 2018. Vol. 93, no 1, p. 182-186
Keywords [en]
COMP, exome sequencing, homozygous, PSACH, variant
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-338961DOI: 10.1111/cge.13091ISI: 000418355600025PubMedID: 28685811OAI: oai:DiVA.org:uu-338961DiVA, id: diva2:1174989
Funder
Swedish Research Council, 2015-02424Swedish Society for Medical Research (SSMF)Available from: 2018-01-17 Created: 2018-01-17 Last updated: 2018-01-17Bibliographically approved

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