Spurlock, G; Bennett, E; Chuzhanova, N; Thomas, N; Jim, H-Ping; Side, L; Davies, S; Haan, E; Kerr, B; Huson, S M; Upadhyaya, M

Table 2 Identification of SPRED1 mutations in six unrelated families. The nature and location of mutations along with the clinical features are listed

Patients	Gender, age	Germline mutation	Clinical Features
Patients	Gender, age	Germline mutation	Café-au-lait spots	Freckling	Lisch nodules	Macrocephaly	Other associated features
Family 1Possible paternal inheritance?	Male, 30 years	Exon: 8c.1048–1049delGG	Present	Present	None	Normal range (50th centile)	Excessive periorbital pigmentation
Family 2Sporadic	Male, 5–9 years	Exon: 8c.1149–1152del 4 bp	Present	Absent	None	N/A	None
Family 3
Father	Male, 28 years	Exon: 8c.784A>T: R262X	Present	Axillary	None	Head circumf: normal range	Congenital soft tissue swelling on scalp
Son	Male, 6 years	Exon: 8c.784A>T: R262X	Present	Axillary and inguinal	None		Inguinal haemangioma
Family 4
Son	Male, 3 years	Exon: 4c.217G>T: E73X	Present	Absent	None	Head circumf: 9th centile	Protruding ears
Father	Male, 26 years	Exon: 4c.217G>T: E73X	Present	Absent	None	Head circumf: 90th centile	Protruding ears
Family 5
Mother	Female, 30–38 years	Exon: 3c.46C>T: R16X	Present	Punctate dots in right groin	None	Head circumf: 50th centile	Father said to have CAL
Daughter	Female, 2–5 years	Exon: 3c.46C>T: R16X	Present	Absent	N/A		Father said to have CAL
Family 6
Grandfather	Male, 60–68 years	Exon: 3c.131T>A: V44D	Present	Present	N/A	Head circumf: 98th centile	None
Father	Male, 30–35 years		Present	Present	N/A	Head circumf: normal range
Son	Male, 4–7 years		Present	N/A	N/A	Head circumf: normal range
Daughter	Female, 2–4 years		Present	present	N/A

CAL, café-au-lait; circumf, circumference; NA, information not available.

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

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