Table 3. .

RAB23 Mutations in Patients with Carpenter Syndrome^[Note]

						Mutation at Allele
						Maternal		Paternal
Subject	Sex	Parental Consanguinity	Country of Origin	Ethnicity	Sample(s) Analyzeda	DNA	Protein	DNA	Protein
3965	M	−	United Kingdom	White	C and M	140_141insA	E48fsX7	140_141insA	E48fsX7
3983	F	1st cousin	Brazil	African/white	C and M	232delT	Y78fsX30	Sameb	−
3961	F	−	United Kingdom	White	C, M, and F	434T→A	L145X	253T→C	C85R
3978	F	−	Brazil	African/white	C and M	408_409insT	E137X	408_409insT	E137X
3980	F	1st cousin once removed	Brazil	White	C, M, and F	408_409insT	E137X	Same	−
3541 (Family 1)	M	−	United States	White	C, M, and F	434T→A	L145X	434T→A	L145X
3589 (Family 1)	F	−	United States	White	C, M, and F	434T→A	L145X	434T→A	L145X
3593 (Family 1)	M	−	United States	White	C, M, and F	434T→A	L145X	434T→A	L145X
3624 (Family 2)	M	1st cousin	Denmark	White	C, M, and F	434T→A	L145X	Same	−
3734	F	−	United Kingdom	White	C and M	434T→A	L145X	434T→Ab	L145X
3947	M	−	Netherlands	White	C, M, and F	434T→A	L145X	434T→A	L145X
3971	M	1st cousin	Netherlands	White	C, M, and F	434T→A	L145X	Same	−
3975	M	1st cousin	Brazil	White	C, M, and F	434T→A	L145X	Same	−
3985	F	−	United Kingdom	White	C, M, and F	434T→A	L145X	434T→A	L145X
4008	F	−	Netherlands	White	C	434T→A	L145X	434T→A	L145X
4009	M	1st cousin	Brazil	African	C, M, and F	434T→A	L145X	Same	−
4059	M	−	United Kingdom	White	C	434T→A	L145X	434T→A	L145X

Note.— Nucleotide numbering of RAB23 cDNA is based on GenBank sequence NM_183227.1 but starts from the first base of the initiation codon. For cases in which the two parental alleles are very unlikely to be independent (due to known consanguinity), the paternal allele is denoted “Same.”

^aC=child; M=mother; F=father.

^bComplete deletion of one allele was not formally excluded by MLPA analysis.