Three GLI3-linked disorders show fascinating diversity. GCPS causes non-functional extra digits, webbing, fusion, and cranial deformations—sometimes hernias or fluid on the brain. PHS brings extra digits, cleft palate, and hypothalamus issues affecting pituitary function. PAPA results in fully functional extra digits, like the Dilda family in Brazil! 🧬
Three genetic disorders linked to GLI3 mutations: GCPS, PHS, and PAPA
Key facts
- Greig Cephalopolysyndactyly Syndrome (GCPS) occurs equally in men and women with ~50% chance of being passed from parent to child; causes non-functional extra digits, webbing, fusion, and cranial deformations
- Pallister-Hall Syndrome (PHS) causes non-functional extra digits, deformed nails, cleft palate, and hypothalamus malformation affecting pituitary function
- Postaxial Polydactyly Type A (PAPA) results in fully functional extra digits next to the pinky, like the Dilda family in Brazil
- GCPS can result in hernias or water on the brain; PHS can cause early development into adulthood
Sources
pmc.ncbi.nlm.nih.gov
Linked in video description
pmc.ncbi.nlm.nih.gov
Linked in video description
incitefulmed.com
Linked in video description
Greig Cephalopolysyndactyly Syndrome (GCPS)link.springer.com
GCPS is primarily caused by mutations in the GLI3 gene, a crucial regulator of embryonic development, particularly in the Sonic Hedgehog pathway.
Greig cephalopolysyndactyly syndrome - Geneticsmedlineplus.gov
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. Mutations in the GLI3 gene cause ...
GLI3-Related Greig Cephalopolysyndactyly Syndromepubmed.ncbi.nlm.nih.gov
by LG Biesecker · 1993 · Cited by 6 — Greig cephalopolysyndactyly syndrome (GLI3-GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary ...
Molecular and Clinical Analyses of Greig ...sciencedirect.com
by JJ Johnston · 2005 · Cited by 349 — Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), ...
Point Mutations in Human GLI3 Cause Greig Syndromeacademic.oup.com
by A Wild · 1997 · Cited by 219 — Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnorma.
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