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(2) Although the pathophysiologic mechanism has not yet been identified, it is believed to be multifactorial in nature and possibly related to a loss-of-function mutation in the LEMD3 gene (also known as MAN1 gene).
This is related to exon 7 gene skipping and was initially supposed to be a loss-of-function mutation. Indeed, heterozygous patients do not develop any symptoms (Figure 7(f)).
This loss-of-function mutation appears to be novel as not present in ethnically diverse population databases (dbSNP, gnomAD, or ClinVar) nor in a locally maintained database of 100 ethnically matched individuals.
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
CCD is caused by a heterozygous loss-of-function mutation in the RUNX2 gene, encoding transcription factor CBFA1, and located on chromosome 6p21.
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
VHL is an autosomal dominant, multiple-neoplasia syndrome caused by a loss-of-function mutation in a tumor suppressor gene.
The disease is caused by a loss-of-function mutation in the ATP2A2 gene on chromosome 12q23-24 that encodes the sarco/endoplasmic reticulum calcium ATPase (SERCA2).
Therefore, the loss-of-function mutation of EED must be accompanied with other gene mutations that would rescue the survival of hematopoietic cells.
Liu et al., "Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation," Human Molecular Genetics, vol.
In their study, Abreu et al (5) found a loss-of-function mutation in the MKRN3 gene associated with familial iCPP.
Therefore, K19E was also a loss-of-function mutation, although it had a similar binding affinity with the ligand than the wild type, which was in good agreement with the experimental results [24, 27].