Skip to main content
Fig. 1 | BMC Neurology

Fig. 1

From: A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

Fig. 1

Genetic analysis. a Pedigrees of the investigated proband siblings. (I:1) and (I:2) are asymptomatic carrier parent. Probands (II:1) and (II:3), are affected siblings; (II:2) is healthy sister. b Co-segregation analysis of p.Asn775Lys (NP_008986), c.2325C > G (NM_007055) in exon 17 and p.Met852Val (NP_008986), c.2554A > G (NM_007055) (rs267608671) in exon 19 of gene POLR3A (OMIM #614258). Sequence analysis is shown for father (I:1) is heterozygous carrier of p.Asn775Val variant and wild type for p.Met852Val variant, mother (I:2) is wild type for p.Asn775Val variant and heterozygous carrier of p.Met852Val variant, probands (II:1) and (II:3) are heterozygous for both variants, helthy sister is wild type for both variants

Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us