a. Pedigree of the Vietnamese family (Family 1) with photo of cephalocele (dotted circle) and skull defect (white arrow) on sagittal brain MRI (T1 weighted image). Black arrow=proband.
b. Pedigree of the Indian family (Family 2) with examples photos of cephalocele and skull defect on x-ray. Black arrow=proband.
c. NID1 mutant sequence from Family 1 (top) compared with the normal NID1 sequence (bottom). Red arrow indicates site of mutant nucleotide.
d. Construction of a NID1 interactome reveals putative candidates for the ADDWOC phenotype that include LAMC1.
e. LAMC1 mutant sequence from Family 2 (top) compared to the normal LAMC1 sequence (bottom).
c and e. Nucleotide numbering reflects cDNA with +1 as the A of the ATG translation initiation codon in the reference sequence (see text). Initiation codon is codon 1.