Table 2 Identification of SPRED1 mutations in six unrelated families. The nature and location of mutations along with the clinical features are listed
PatientsGender, ageGermline mutationClinical Features
Café-au-lait spotsFrecklingLisch nodulesMacrocephalyOther associated features
Family 1Possible paternal inheritance?Male, 30 yearsExon: 8c.1048–1049delGGPresentPresentNoneNormal range (50th centile)Excessive periorbital pigmentation
Family 2SporadicMale, 5–9 yearsExon: 8c.1149–1152del 4 bpPresentAbsentNoneN/ANone
Family 3
FatherMale, 28 yearsExon: 8c.784A>T: R262XPresentAxillaryNoneHead circumf: normal rangeCongenital soft tissue swelling on scalp
SonMale, 6 yearsPresentAxillary and inguinalNoneInguinal haemangioma
Family 4
SonMale, 3 yearsExon: 4c.217G>T: E73XPresentAbsentNoneHead circumf: 9th centileProtruding ears
FatherMale, 26 yearsPresentAbsentNoneHead circumf: 90th centile
Family 5
MotherFemale, 30–38 yearsExon: 3c.46C>T: R16XPresentPunctate dots in right groinNoneHead circumf: 50th centileFather said to have CAL
DaughterFemale, 2–5 yearsPresentAbsentN/A
Family 6
GrandfatherMale, 60–68 yearsExon: 3c.131T>A: V44DPresentPresentN/AHead circumf: 98th centileNone
FatherMale, 30–35 yearsPresentPresentN/AHead circumf: normal range
SonMale, 4–7 yearsPresentN/AN/AHead circumf: normal range
DaughterFemale, 2–4 yearsPresentpresentN/A
  • CAL, café-au-lait; circumf, circumference; NA, information not available.