L'ipocondroplasia è una displasia il cui fenotipo è simile a quello dell'acondroplasia ma di grado più modesto. Le ossa lunghe si presentano lievemente più corte ed ispessite, possono essere leggermente ricurve, lieve lordosi lombare ed estensione limitata dell'articolazione dei gomiti. Non vi è la classica rizomelia come nell'acondroplasia.
La malattia è trasmessa come carattere autosomico dominante ed è spesso causata da mutazioni del gene FGFR3 che mappa su 4p16.3.
LISTA DEI GENI INTERESSATI E TIPI DI MUTAZIONI
HYPOCHONDROPLASIA FGFR3 Asn540Lys
HYPOCHONDROPLASIA FGFR3 Asn540Thr
HYPOCHONDROPLASIA FGFR3 Ile538Val
HYPOCHONDROPLASIA FGFR3 Lys650Asn
HYPOCHONDROPLASIA FGFR3 Lys650Asn
HYPOCHONDROPLASIA FGFR3 Lys650Gln
HYPOCHONDROPLASIA FGFR3 Asn540Ser
HYPOCHONDROPLASIA FGFR3 Tyr278Cys
HYPOCHONDROPLASIA FGFR3 Ser84Leu
HYPOCHONDROPLASIA FGFR3 Gly342Cys
Bibliografia
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