Mary Quaresma is from Pico and Ribiera or St Miguel where 30% of the Population is Jews and Perry or Perriera is a Jewish name.
Neuronal Ceroid Lipofuscinosis, CLN6-associated
1 in 139
< 1 in 600
In at least 2 members of a consanguineous family with profound growth hormone deficiency, Wajnrajch et al.(1996) demonstrated a nonsense mutation in the human GHRHR gene (139191.0001). The phenotype in this Indian Moslem kindred was comparable to that in the 'little' mouse, which carries a mutation in the growth hormone-releasing factor receptor (Ghrfr). The authors pointed out that other members of the G protein-coupled receptor superfamily are subject to mutations that can cause an increase in ligand-mediated signaling or constitutive receptor activation and resulted in hyperfunction of target cells. Endocrine disorders resulting from such activating mutations include familial male precocious puberty (176410) caused by mutation in the LH receptor (152790), Jansen metaphyseal dysplasia with hypercalcemia (156400) caused by mutation in the PTH receptor (168468), and hyperparathyroidism caused by mutation in the calcium-sensing receptor (145980.0004). Wajnrajch et al.(1996) suggested that analogous mutations in the GHRHR gene should be sought in patients with excessive production of growth hormone causing gigantism or acromegaly.
Aguiar-Oliveira et al.(1999) measured IGF1, IGF2 (147470), IGF-binding protein-1 (IGFBP1; 146730), IGFBP2 (146731), IGFBP3, and acid labile subunit (ALS; 601489) in 27 subjects with GHD (aged 5 to 82 years) from an extended kindred in Northeast Brazil with the intron 1 splice site GHRHR mutation (139191.0002) and in 55 indigenous controls (aged 5 to 80 years). All components of the IGF axis, measured and theoretical, showed complete separation between GHD and control subjects, except IGFBP1 and IGFBP2 concentrations, which did not differ. The most profound effects of GHD were on total IGF1, IGF1 in the ternary complex, and ALS. The proportion of IGF1 associated with IGFBP3 remained constant throughout life, but was significantly lower in GHD due to an increase in IGF1/IGFBP2 complexes. As diagnostic tests, IGF1 in the ternary complex and total IGF1 provided the greatest separation between GHD and controls in childhood. The authors concluded that severe GHD not only reduces the amounts of IGFs, IGFBP3, and ALS, but also modifies the distribution of the IGFs bound to each IGFBP.
Steven Perry has insentive Laron Syndrome like me and other people or Jewish Portuguese descent. I will be bring home to the Portugues Jews from Philippino in 2014 Espero que seem?