Table 3

ERCC6/CSB mutations identified in three or more patients

c.466C>Tc.526C>Tc.1834C>Tc.1954C>Tc.2047C>Tc.2167C>Tc.2203C>Tc.2599-26A>Gc.3862C>Tc.4063–1G>C
aaCagaaCgatgCagttCgatcCgataCagtaCgacaAacacCgataGga
UKCS1SOUKCS10MAUKCS1OXUKCS1NEUKCS26LOUKCS22BRBrazilCS31PVPakistanCS32LOUKCS071STIndia
CS1PRUKCS1GOSwedenCCS8JapanCS13MAPakistanCS32LOUKCS1LIUKCS12ROItalyCS215STUKCS270STIranCS204STIndia
CS225STUKCS27PVItalyCS18NGJapanCS1SOUKCS12MAUKCS8MAUKCS2LEUK-TurkeyCS225STUKCS278STFranceCS221STIndia
CS5MAUKCS195STFranceCS288STReunionCS3BIUKCS1GGOGermanyCS286STFrance-AlgeriaCS222STIndia
CS14LOUKCS11MAUKCS2GRAustria
CS2LEUKCS19LOUKCS14PVItaly
CS1SHUKCS10MAUKCS22PVItaly
CS12MAUKCS25PVItaly
CS148STSouth AfricaCS26PVItaly
CS19BRUKCS17LOUK-Turkey
CS2BLUKCS128STFrance-Bosnia
CS28PVItaly
  • For each mutation (top row), the sequence around the mutated base (CAPS) is indicated (second row), followed by the cell strain designations and country of origin of the patients’ families. No indication implies origin is unknown.