Phenotype: Gerodermia osteodysplas c Italian version Gene name: GORAB h ps://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB
Gene loca on: chr1: 1q24.2
Protein loca on:
The ene is expressed, at the cellular level, mainly in the nucleus, in the cytoplasm and at the level of the Golgi apparatus. Protein name: RAB6-INTERACTING GOLGIN Accession uniprot: Q5T7V8 h ps://www.uniprot.org/uniprot/Q5T7V8 Size: 394 aminoacids Molecular weight: 44993 Da Structure: as not yet been iden fied Descrip on and func on: The gene codes a member of the family of a group of double-spiraling proteins, located in the Golgi unit and in the cytoplasm. The coded protein can play a role in secretory processes and also has interac ons with proteins involved in mitosis. Muta ons and pathologies: Geroderma osteodysplas c, also called "Walt Disney nanism", is a rare autosomal recessive disorder affec ng connec ve ssue; it is characterized by a loose and wrinkled skin and a prematurely aged appearance. Significant bone changes are present, involving advanced osteoporosis that can lead to mul ple fractures, hypoplasia (reduced development) of the jaw and a variable degree of growth deficit. Bones can also present mul ple lines similar to tree growth rings.
(a) Lax skin on the abdomen in younger sibling demonstrated by pinching the skin. (b) Note a er the pinch has been released; the skin fold s ll persists showing the lax abdominal skin h p://www.ijpd.in/ar cle.asp? issn=2319-7250;year=2017;volume=18;issue=2;spage=148;epage=150;aulast=Arif
OMIM ACCESSION: h p://omim.org/entry/231070
Incidence: <1 / 1 000 000
Therapies: Life expectancy is normal and the treatment of osteodysplas c Geroderma is symptoma c. However, the limits are not as great as with many similar disorders of cu s laxa syndrome. in fact only generalized osteoporosis requires constant monitoring and therapy; bisphosphonates were effec ve in cases with serious presence of osteopenia. Naturally, frequently occurring fractures must be treated at any me; in the course of life, however, fractures gradually decrease and the bone metabolism normalizes. Eye disorders also need constant monitoring, because corneal clouding and even glaucoma can occur. However, eye symptoms are not always present. The affected person has progeroid cha- racteris cs.
CURIOSITY: The disease is also called Walt Disney's dwarfism because those who are af- fected have some similari es with the Walt Disney dwarfs. Gerodermia osteodisplas ca Nome del Gene: GORAB h ps://www.genecards.org/cgi-bin/carddisp.pl?gene=GORAB
Localizzazione del gene: chr1: 1q24.2
PEspressione del gene e localizzazione della proteina
Il gene è espresso a livello cellulare nel nucleo, nel citplasma e nell’apparato del Golgi . None della proteina: RAB6-INTERACTING GOLGIN Accesso uniprot: Q5T7V8 h ps://www.uniprot.org/uniprot/Q5T7V8 Lunghezza: 394 aminoacidi Peso molecolare: 44993 dalton Stru ura 3D: non determinata Descrizione e funzione: la proteina ha un ruolo nei processi di secrezione e interagisce con altre proteine coinvolte nella mitosi. Mutazioni e patologie: Il geroderma osteoplas co anche chiamato “nanismo di Walt Disney” è una mala a auto- sonica recessiva rara che colpisce il tessuto conne vo; le persone affe e hanno pelle allen- tata e rugosa e un aspe o prematuramente invecchiato. Sono affe anche da osteoporosi grave che può portare a fra ure mul ple, ipoplasia (sviluppo rido o) della mascella e deficit di crescita. Le ossa possono anche presentare più linee simili agli anelli di crescita degli albe-
(a) Viene mostrato come sia lassa la pelle sull’addome di una persona giovane e come (b) rimanga alterata dopo il pizzico o h p://www.ijpd.in/ar cle.asp?issn=2319-7250;year=2017;volume=18;issue=2;spage=148;epage=150;au- last=Arif
ACCESSO OMIM: h p://omim.org/entry/231070
Incidenza: <1 / 1 000 000
Terapia: l’aspe a va di vita delle persone affe e è normale e si curano solo i sintomi. Solo l’osteoporosi richiede controlli con nui e terapie con bifosfona , farmaci in grado di inibi- re il riassorbimento osseo.
CURIOSITA’: la patologia viene indicata come nanismo di Walt Disney proprio per cara e- ris che fisiche che hanno somiglianze con i nani dei cartoni anima .