PMC5448135_01
Pedigree of consanguineous family with three intellectual disable children. A: Pedigree of consanguineous family showing three affected children with intellectually disable and dysmorphic features. Circles and squares denote females and males respectively, filled symbols represent affected members, double lines denote consanguineous marriage, roman numbers indicate the first generation until their offspring, arabic numbers depict all participants in this study. B: Pictures of affected children showing the typical feature of ARID1B-related ID. B.a,b: showing abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, low anterior hair line with thick eyebrows, broad nasal tip, large mouth with thick lower lip and hypertrichosis. B.c: shows shows short fingers. B:d: shows broad big toe. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
nihms857696f1.jpg
PMC5448135_03_nihms857696f1.jpg
F1
A 9-year-old boy the product of normal pregnancy and delivery (Fig. 1A_V-5).
Molecular analysis of patients with ARID1B mutation. A: DNA chromatograms of ARID1B mutation compared to wild-type sequence. A.b: shows the heterozygous nonsense mutation (c.4318C>T) detected in the affected patients. A.a,c: show normal chromatograms in the parents. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
nihms857696f2.jpg
PMC5448135_03_nihms857696f2.jpg
F2
A 9-year-old boy the product of normal pregnancy and delivery (Fig. 1A_V-5). Sanger sequencing validated the segregation of this deletion in the studied family showing that both parents and all unaffected siblings were homozygous for the wild-type allele while all three affected children were heterozygous (Fig. 2A).
PMC5448135_02
Pedigree of consanguineous family with three intellectual disable children. A: Pedigree of consanguineous family showing three affected children with intellectually disable and dysmorphic features. Circles and squares denote females and males respectively, filled symbols represent affected members, double lines denote consanguineous marriage, roman numbers indicate the first generation until their offspring, arabic numbers depict all participants in this study. B: Pictures of affected children showing the typical feature of ARID1B-related ID. B.a,b: showing abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, low anterior hair line with thick eyebrows, broad nasal tip, large mouth with thick lower lip and hypertrichosis. B.c: shows shows short fingers. B:d: shows broad big toe. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
nihms857696f1.jpg
PMC5448135_03_nihms857696f1.jpg
F1
A 9-year-old boy the product of normal pregnancy and delivery (Fig. 1A_V-5).
Molecular analysis of patients with ARID1B mutation. A: DNA chromatograms of ARID1B mutation compared to wild-type sequence. A.b: shows the heterozygous nonsense mutation (c.4318C>T) detected in the affected patients. A.a,c: show normal chromatograms in the parents. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
nihms857696f2.jpg
PMC5448135_03_nihms857696f2.jpg
F2
A 9-year-old boy the product of normal pregnancy and delivery (Fig. 1A_V-5). Sanger sequencing validated the segregation of this deletion in the studied family showing that both parents and all unaffected siblings were homozygous for the wild-type allele while all three affected children were heterozygous (Fig. 2A).
PMC5448135_03
Pedigree of consanguineous family with three intellectual disable children. A: Pedigree of consanguineous family showing three affected children with intellectually disable and dysmorphic features. Circles and squares denote females and males respectively, filled symbols represent affected members, double lines denote consanguineous marriage, roman numbers indicate the first generation until their offspring, arabic numbers depict all participants in this study. B: Pictures of affected children showing the typical feature of ARID1B-related ID. B.a,b: showing abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, low anterior hair line with thick eyebrows, broad nasal tip, large mouth with thick lower lip and hypertrichosis. B.c: shows shows short fingers. B:d: shows broad big toe. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
nihms857696f1.jpg
PMC5448135_03_nihms857696f1.jpg
F1
A 9-year-old boy the product of normal pregnancy and delivery (Fig. 1A_V-5).
Molecular analysis of patients with ARID1B mutation. A: DNA chromatograms of ARID1B mutation compared to wild-type sequence. A.b: shows the heterozygous nonsense mutation (c.4318C>T) detected in the affected patients. A.a,c: show normal chromatograms in the parents. [Color figure can be seen in the online version of this article, available at http://wileyonlinelibrary.com/journal/ajmga]
nihms857696f2.jpg
PMC5448135_03_nihms857696f2.jpg
F2
A 9-year-old boy the product of normal pregnancy and delivery (Fig. 1A_V-5). Sanger sequencing validated the segregation of this deletion in the studied family showing that both parents and all unaffected siblings were homozygous for the wild-type allele while all three affected children were heterozygous (Fig. 2A).