Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.113C>T	p.Thr38Met	Exon 3	Missense	Likely non disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Ig 1	In family 2: also a nonsense mutation was found

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia	Translocation chromosome 16	Vos et al. (2010)
2	1	Adducted thumbs, Hydrocephalus, ?	p.Gln 789X detected	Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429