CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Table 1 Mutations identified in the present study*

Exon/intron	Nucleotide change	Type of mutation	Predicted protein	Case	Mutation origin	Patient ID
Ex 3	c.115C > T	Nonsense	p.Q39X	Sporadic	De novo	146°
	c.225C > G	Missense	p.N75K	Sporadic	De novo	145°
	c.275_276delCT	Frameshift	p.S92CfsX115	Sporadic	De novo	169
Ex5	c.400_403delGAAA	Frameshift	p.E134IfsX143	Sporadic	De novo	TH2
Ex 6	c.508_509delGA	Frameshift	p.D170FfsX173	Sporadic	NA	TH3
Ex 8	c.710dupA	Frameshift	p.Y238VfsX239	Sporadic	NA	148
	c.710dupA	Frameshift	p.Y238VfsX239	Sporadic	De novo	150
	c.710dupA	Frameshift	p.Y238VfsX239	Sporadic	NA	TH4
Ex 9	c. 914_915delAA	Frameshift	p.R306SfsX307	Sporadic	De novo	155°
Ex 11	c.1059 T > A	Nonsense	p.Y353X	Sporadic	De novo	159°
	c.1099C > T	Nonsense	p.R367X	Sporadic	De novo	156
	c.1099C > T	Nonsense	p.R367X	Sporadic	NA	147
	c.1128A > G	Splicing	-	Sporadic	De novo	151°
Int 11	c.1130-1G > A	Splicing	-	Sporadic	De novo	TH5
Ex 12	c.1193_1196del AATC	Frameshift	p.Q398LfsX400	Sporadic	De novo	161
Genomic rearrangements:
Del ex 11	-	Genomic deletion	-	Sporadic	NA	139°
Del ex 7-10	-	Genomic deletion	-	Sporadic	NA	141°

*As reference, the A of the ATG translation initiation start site of the coding sequence for OFD1 (Entrez nucleotide accession number NM_003611) is referred to as nucleotide +1.
NA, non-ascertained.
^onot reported before.

ISSN: 1750-1172