Human growth hormone helps avoid several disorders, which include growth hormone deficiency, Turner syndrome, Prader-Willi syndrome, Noonan syndrome, SHOX gene haploinsufficiency
, idiopathic short stature, Creutzfeldt-Jakob disease, and chronic kidney diseases.
(74) Thus, it is reasonable to assume that the devastating effect of the translocation in the pedigree is due to haploinsufficiency
of the DISCI gene.
They concluded that AHDC1 haploinsufficiency
caused the XGS (MIM #615829), a rare syndromic form of ID with autosomal dominant inheritance.
On the other hand, another fraction of genetic disorders is caused by loss of regulation resulting in excess or insufficient protein production and include more than 660 genes that are currently estimated to cause human disease due to haploinsufficiency
Most mutations in the TCOF1 gene result in the truncation of encoded treacle protein, which leads to TCOF1 haploinsufficiency
They concluded that haploinsufficiency
and heterozygous mutations in this gene were the genetic causes of WDSTS.
Clinical phenotype of germline RUNX1 haploinsufficiency
: from point mutations to large genomic deletions.
The same group later described an association between haploinsufficiency
of the TNXB gene and JH in heterozygous females.
(23.) Lam JB, Chow KH, Xu A, Lam KS, Liu J, Wong NS, Moon RT, Shepherd PR, Cooper GJ, Wang Y Adiponectin haploinsufficiency
promotes mammary tumor development in MMTV PyVT mice by modulation of phosphatase and tensin homolog activities.
The first FLNC -related disease was described in 2005 when a nonsense mutation (c.G8130A, p.W2710X) in the FLNC rod domain was shown to cause skeletal and cardiac myopathy in a large German myofibrillar myopathy (MFM) family. A frameshift mutation in FLNC leads to haploinsufficiency
in three presumably related Bulgarian families, as well as the missense mutations (p.A193T; p.M251T) in the ABD of filamin-C, resulting in increased actin binding affinity in families from Australia and Italy and causing distal myopathies.
causes CMMD in humans (14).
(6) It has also been suggested that haploinsufficiency
for specific genes that are necessary for neurodevelopment leads to reduced synaptic plasticity and formation of aberrant connectivity, thus setting the stage for increased vulnerability to psychosis in individuals with DGS.