Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family
| Autor: | Craig Campbell, Eugenio Zapata-Aldana, Sulaiman B Al-Mobarak, Natalya Karp |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine Canada Genotype 030105 genetics & heredity Biology Pediatrics Short stature Ion Channels 03 medical and health sciences Ptosis Marden–Walker syndrome Genetics medicine Humans Genetic Predisposition to Disease Clinical significance Genetic Testing Alleles Genetic Association Studies Genetics (clinical) Arthrogryposis Proprioception Infant Newborn Facies medicine.disease Phenotype Pedigree 030104 developmental biology arthrogryposis multiple distal arthrogryposis mechanotransduction Piezo2 restrictive pulmonary function Child Preschool Mutation PIEZO2 Gene Female Congenital contracture medicine.symptom |
| Zdroj: | Paediatrics Publications |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61143 |
| Popis: | The group of distal arthrogryposis (DA) disorders is characterized by congenital contractures of the distal joints. In most instances, these are genetic disorders are inherited in an autosomal dominant fashion; however, there is wide genetic and phenotypic spectrum. Distal arthrogryposis type 5 (DA5) is clinically characterized by short stature, deep-set eyes, ptosis, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles. DA5 is produced by a gain-of-function mutations in PIEZO2 gene, encoding for an ion-channel required to convert mechanical stimulus to biological signals in mammals essential to proprioception. Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this report, we present a 3-generation family affected with DA5, who all carry a variant of unknown clinical significance c.8068A>C (p.Ser2690Arg) in the PIEZO2 gene. DA5 is a very rare condition with less than 20 cases previously reported. Our report expands the phenotype and contributes to evidence of this variant's pathogenicity. |
| Databáze: | OpenAIRE |
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