2020
DOI: 10.1002/mgg3.1229
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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Abstract: BackgroundAutosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese.MethodsWe report six cases of nemaline myopathy 8 which involves the c.1516A>C variant, from five unrelated families of non‐consanguineous southern Chinese. The pre‐ and postnatal phenotypes of these cases were reviewed with emphasis on prenatal cli… Show more

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Cited by 12 publications
(18 citation statements)
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“…In humans, mutations in the Klhl40 gene have been associated with various forms of nemaline myopathies [ 216 , 217 , 218 , 219 , 220 , 221 , 222 , 223 , 224 ]. Intriguingly, acetylcholinesterase inhibition initiated a sustained positive response in a patient with a Klhl40 mutation, suggesting a role for this BTB-domain-containing protein in NMJ formation and function [ 225 ].…”
Section: The Roles Of Cullin-3 E3-ligase Complexes In Cardiac Andmentioning
confidence: 99%
“…In humans, mutations in the Klhl40 gene have been associated with various forms of nemaline myopathies [ 216 , 217 , 218 , 219 , 220 , 221 , 222 , 223 , 224 ]. Intriguingly, acetylcholinesterase inhibition initiated a sustained positive response in a patient with a Klhl40 mutation, suggesting a role for this BTB-domain-containing protein in NMJ formation and function [ 225 ].…”
Section: The Roles Of Cullin-3 E3-ligase Complexes In Cardiac Andmentioning
confidence: 99%
“…40,41 In southern China, researchers identified a KLHL40 founder mutation inherited both homozygous and heterozygous, which often leads to a truncation of the protein. 42 Several new mutations in tropomyosin genes, including TPM3 , have also been identified. 43,44 RYR mutations have been associated with various myopathies, but rarely with NM.…”
Section: Resultsmentioning
confidence: 99%
“…The paternally inherited frameshift variant is novel, and it leads to a premature termination codon in the BACK domain that consequently results in loss-of-function of KLHL40 . The maternally inherited missense variant has been proven to be a founder mutation in ethnic Chinese individuals [ 8 ]. Both variants can be classified as pathogenic according to the ACMG/AMP guidelines [ 10 ].…”
Section: Resultsmentioning
confidence: 99%
“…NEM8 is considered to be a very rare autosomal recessive muscle disorder, with only 46 NEM8 individuals being reported worldwide; 30 variants in KLHL40 have been identified to date [ 2 9 ]. Recently, two genetic testing centers from southern China analyzed the frequency of pathogenic variants of KLHL40 in their in-house database and proposed that the condition was not-so-rare in southern Chinese individuals, suggesting that the gene/variants should be included in a carrier screening panel and considered in prenatal diagnosis when congenital myopathies are suspected [ 8 , 9 ]. However, this evidence is from only two centers and is limited.…”
Section: Introductionmentioning
confidence: 99%