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. Author manuscript; available in PMC: 2014 Aug 1.
Published in final edited form as: Hum Mutat. 2013 May 28;34(8):1075–1079. doi: 10.1002/humu.22351

Figure 1. Pedigrees and Phenotyptes of Affected ADDWOC Families, NID1 and LAMC1 mutations, and NID1 interactome.

Figure 1

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.