International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.
Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS.
Baskent University, Ankara, Turkey.
Ismail
I
Yildiz
Yahya
Y
Sagliker
Osman
O
Demirhan
Erdal
E
Tunc
Nihal
N
Inandiklioglu
Deniz
D
Tasdemir
Vidya
V
Acharya
Ling
L
Zhang
Ovidia
O
Golea
Alaa
A
Sabry
Dhananjay S
DS
Ookalkar
Cristina
C
Capusa
Dana
D
Radulescu
Liliana
L
Garneata
Gabriel
G
Mircescu
Hedi
H
Ben Maiz
Cheng Hsu
CH
Chen
Jorge
J
Prado Rome
Mansour
M
Benzegoutta
Nuray
N
Paylar
Kamil
K
Eyuboglu
Ersin
E
Karatepe
Mustafa
M
Esenturk
Onder
O
Yavascan
Alicza
A
Grzegorzevska
Valery
V
Shilo
Mitra Mahdavi
MM
Mazdeh
Ramos Carillo
RC
Francesco
Zaghloul
Z
Gouda
Siddik Momin
SM
Adam
Idris
I
Emir
Faith
F
Ocal
Erol
E
Usta
Necati
N
Kiralp
Cemal
C
Sagliker
Piril Sagliker
PS
Ozkaynak
Hasan Sabit
HS
Sagliker
Mahmoud
M
Bassuoni
Oktay
O
Sekin
D002864:Chromogranins; D005091:Exons / Q000235:genetics; D005147:Facial Bones / Q000473:pathology*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D006962:Hyperparathyroidism, Secondary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007676:Kidney Failure, Chronic / Q000150:complications*; D020125:Mutation, Missense / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D013577:Syndrome
D002864:Chromogranins; D044169:Receptors, Calcium-Sensing; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs