Seckelov sindrom

Sickelov sindrom
(Harperin sindrom)
Sickelov sindrom ; (Harperin sindrom)
	Seckelov sindrom nasljeđuje se po autosomno recesivnom obrascu Oblast: Medicinska genetika;
Klasifikacija i vanjski resursi
ICD-10	Q87.1
ICD-9	759.89
OMIM	210600
DiseasesDB	31625

Seckelov sindrom ili mikrocefalna primordijalna patuljastost (također poznat kao ptičja patuljastost, Harperin sindrom, Virchow–Seckelova patuljastost i Seckelova ptičja patuljastost^[1]) je izuzetno rijedak prirođeni nanosomski poremećaj. Nasljeđivanje je autosomno recesivno.^[2] Karakteriziraju ga unurarmaternično ograničenje rasta i postnatalna patuljastost sa malom glavom, uskim ptičjim licem s kljunastim nosem, velikim očima sa kosim usmjerenjem palpebralne pukotine prema dolje,^[3] povlačenje mandibule i intelektualna invalidnost.

Razvijen je mišji model.^[4] Ovaj mišji model karakterizira ozbiljan nedostatak proteina ATR^[4] Ovi miševi imaju visok nivo replikativnog stresa i oštećenje DNK. Seckel-modeli odraslih miševa pokazuju ubrzano starenje.^[4] Ovi nalazi su u skladu sa teorijom oštećenja DNK starenjem.

Simptomi i znaci

Simptomi uključuju:

intelektualna invalidnost (više od polovine pacijenata ima IQ ispod 50)
mikrocefalija
ponekad pancitopenija (slaba krvna slika)
kriptorhizam
mala porođajna težina
iščašenja karlice i lakta
neobično velike oči
niske uši
mala brada

Genetika

Vjeruje se da je Sickelov sindrom uzrokovan defektima gena na hromosomima 3 i 18. Jedan oblik Seckelovog sindroma može biti uzrokovan mutacijom gena koji kodira ataksija telangiektazija i Rad3-srodni protein (ATR) koji je mapiran na hromosomu 3, pozicija q22.1-q24 . Ovaj gen je centralni u ćelijskom odgovoru na oštećenje DNK i mehanizmu popravka.

Tipovi uključuju:

Tip	OMIM	Gen	Lokus
SCKL1	OMIM: 210600	ATR	3q22-q24
SCKL2	OMIM: 606744	?	18p11-q11
SCKL3	OMIM: 608664	?	14q
SCKL4	OMIM: 613676	CENPJ	13q12

Historija

Sindrom je imenovan po njemačko-američkom ljekaru Helmutu Paulu Georgeu Seckelu^[5] (1900–1960). Sinonim Harperin sindrom je prema Riti G. Harper.^[6]^[7]

Reference

^ Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D (2007). "Bird-headed dwarf of Seckel". J Indian Soc Pedod Prev Dent. 25 Suppl: S8–9. PMID 17921644.
^ James Wynbrandt; Mark D. Ludman (februar 2008). The encyclopedia of genetic disorders and birth defects. Infobase Publishing. str. 344–. ISBN 978-0-8160-6396-3. Pristupljeno 7. 1. 2011.
^ Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ (2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature". Urology. 120: 241–243. doi:10.1016/j.urology.2018.05.023. PMID 29894776.
^ ^a ^b ^c Murga M, Bunting S, Montaña MF, et al. (august 2009). "A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging". Nat. Genet. 41 (8): 891–8. doi:10.1038/ng.420. PMC 2902278. PMID 19620979.
^ Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
^ "Seckel's syndrome".
^ Harper RG, Orti E, Baker RK (maj 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies". J. Pediatr. 70 (5): 799–804. doi:10.1016/S0022-3476(67)80334-2. PMID 6022184.

Vanjski linkovi

Seckel's syndrome na Who Named It?

Šablon:Nedostaci unutarćelijskih signalnih peptida i proteina Šablon:Nukleusne bolesti

[pmid17921644-1] Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D (2007). "Bird-headed dwarf of Seckel". J Indian Soc Pedod Prev Dent. 25 Suppl: S8–9. PMID 17921644.

[WynbrandtLudman2008-2] James Wynbrandt; Mark D. Ludman (februar 2008). The encyclopedia of genetic disorders and birth defects. Infobase Publishing. str. 344–. ISBN 978-0-8160-6396-3. Pristupljeno 7. 1. 2011.

[PMID29894776-3] Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ (2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature". Urology. 120: 241–243. doi:10.1016/j.urology.2018.05.023. PMID 29894776.

[pmid19620979-4] Murga M, Bunting S, Montaña MF, et al. (august 2009). "A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging". Nat. Genet. 41 (8): 891–8. doi:10.1038/ng.420. PMC 2902278. PMID 19620979.

[5] Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.

[6] "Seckel's syndrome".

[pmid6022184-7] Harper RG, Orti E, Baker RK (maj 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies". J. Pediatr. 70 (5): 799–804. doi:10.1016/S0022-3476(67)80334-2. PMID 6022184.

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p r u Sindromi urođenih mana
Craniofacial	Acrocephalosyndactylia Apertov sindrom Carpenterov sindrom Pfeifferov sindrom Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver-Russellov_sindrom Seckelov sindrom Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotosov sindrom Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutelov sindrom, Timothy syndrome) 15 (Marfanov sindrom) 19 (Donohue syndrome) Multiple Fryns syndrome