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Fig. 2 | BMC Medical Genetics

Fig. 2

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

Fig. 2

a Pedigree of a consanguineous Pakistani family ED210 showing co-segregation of TTDN with the 4.13-Mb haplotype that includes the MPLKIP c.339 + 1G > A variant and four SNPs. The haplotype in family ED210 is included within the haplotype from family ED168. b Affected individual IV-3 (17 years old) has sparse eyebrows and eyelashes, crooked beaked nose, flat malar eminences, retrognathia, patchy hair loss on scalp, and nail dystrophy. c Aside from hair abnormalities, the proband IV-4 (8 years old) also has hypodontia and irregular teeth. The echocardiogram from IV-4 shows mitral regurgitation. d Pedigree of third family, ED241 showing co-segregation of TTDN with the MPLKIP c.339 + 1G > A variant. The affected individuals IV-1 (e) and IV-2 (f) show sparse to absent eyebrows and eyelashes, brittle and sparse hairs on scalp and dystrophic toenails. The echocardiogram from IV-1 (e) also shows mitral regurgitation

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