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Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Abstract：

:Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, lethal type (OMIM#253290). Mutations in CHRNG, which encode the acetylcholine receptor gamma subunit, cause most cases of MPS. Here, we present three patients from two unrelated families showing multiple joint contractures in both the upper and lower limbs. High-arched palates with malocclusion, short neck and micrognathia were observed in all patients. Peripheral blood karyotypes were normal. Whole-exome sequencing analysis of the patients' genomes led to the discovery of identical missense (p.Pro143Arg) and frameshift deletion variants (p.Pro251fs*45) on CHRNG. These were rare cases of congenital arthrogryposis multiplex related to novel recessive CHRNG variants in two Korean kindred without apparent relatedness.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Seo J,Choi IH,Lee JS,Yoo Y,Kim NK,Choi M,Ko JM,Shin YB

doi

10.1038/jhg.2015.2

subject

Has Abstract

pub_date

2015-04-01 00:00:00

pages

213-5

issue

4

eissn

1434-5161

issn

1435-232X

pii

jhg20152

journal_volume

60

pub_type

杂志文章

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