in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
BSCL type 2, classified as one of the most dangerous of lipodystrophies, is a recessive disease caused by loss-of-function mutations
, characterized by a severe adipose tissue disorder that might affect cognition-related nervous tissue regions [20, 64, 65].
Consistent with other forms of recessive ataxias and SNX-related ataxia in particular, a complete loss-of-function mutation
as well as early-onset presentation was observed in this family [3-5].
DISCUSSION: Darier's disease (1) is caused by a loss-of-function mutation
in the ATP2A2 that leads to a disruption of [Ca.sup.2+] homeostasis within the keratinocytes.
Some of these mutations are thought to be loss-of-function mutations
; thus knockout mice have been used for the investigation of the functional consequences of these mutations.
Schmitt et al., "Characterizations of a loss-of-function mutation
in the Kir3.4 channel subunit," Biochemical and Biophysical Research Communications, vol.
Gain-of-function mutations in the KISS1 and KISSR1 genes and loss-of-function mutations
in the makorin ring finger protein 3 (MKRN3) gene were shown to result in CPP (3,4,5).
Two siblings with isolated GH deficiency due to loss-of-function mutation
in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.
Hamada [sup] identified the genetic defect to be a loss-of-function mutation
or reduced expression of the gene encoding extracellular matrix protein 1 (ECM1) on chromosome 1q21 in 2002.
Torres et al., "A novel loss-of-function mutation
(N48K) in the PTEN gene in a Spanish patient with Cowden disease," Journal of Investigative Dermatology, vol.
Given the high lifetime risk for breast cancer in PALB2 loss-of-function mutation
carriers, the study investigators back the inclusion of PALB2 when testing women from high-risk breast cancer families, together BRCA1 and BRCA2.
in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.