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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Fig. 1

a Pedigree of consanguineous Pakistani family ED168 showing co-segregation of TTDN with the SNP haplotype including the MPLKIP c.339 + 1G > A variant. A DNA sample from the proband IV-1 was submitted for exome sequencing. The left panel lists the SNP markers and corresponding hg19 physical positions on chromosome 7. b Chromatograms showing the splice variant as homozygous in an affected individual and heterozygous or wild type in unaffected individuals. c Affected individual IV-2 (35 years old) has cataract and corneal bulging on the left eye, absent eyelashes, sparse eyebrows, patchy hair loss on scalp and toenail dystrophy with grooved ridges. Scalp hair examination with light microscopy shows characteristic tiger tail pattern. Echocardiogram from individual IV-2 revealed extra downward peaks, suggestive of mitral regurgitation. d Affected individual IV-4 (27 years old) has sparse eyebrows, eyelashes and facial and leg hair. He also has irregular teeth with hypodontia and dystrophic nails with grooved ridges. e cDNA analyses of the wild type transcript (lane W, 585 bp) and mutated MPLKIP transcript (lane M, 1569 bp) expressed in HEK293 cells, as compared to lane L showing the 2-Log DNA Ladder. The position of 500 bp and 1500 bp products in ladder is marked with arrows

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