Figure 2 | Genetics in Medicine

Figure 2

From: Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Figure 2

Identification and characterization of GRID2 deletion. (a) Pedigree of the family. Genotypes are indicated for all family members for whom segregation analysis was performed. (b) Segregation analysis of the deletion in all family members. One healthy sibling (IV:1) does not carry the deletion, both parents (III:1 and III:2) and the other healthy sibling (IV:2) carry one copy of the deletion, and the proband (IV:3) has two copies. (c) ArrayCGH profile indicating the presence of a deletion on chromosome 4 (chr.4). (d) Further delineation of the deletion by conventional polymerase chain reaction (PCR). Gray and red boxes and connecting lines indicate respectively nondeleted and deleted exons and introns. Short horizontal lines correspond to designed PCR amplicons and are used to delineate the deletion. The black dotted line indicates the junction product. (e) Sanger sequencing of the junction product led to the delineation of the deletion at nucleotide level, chr4: g.93422866_93754032del. del, allele with deleted exon 2; wt, wild-type allele.

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