Hypotrichosis associated with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by short scalp hair from birth and progressive macular degeneration. Loss of central vision usually occurs between the second and fourth decades of life. Mutations in the P-cadherin gene (CDH3 ; GenBank NM_001793) were first reported to underlie HJMD by Sprecher et al1; splice, missense, and nonsense mutations have since been described.2- 5
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Figure 1. Clinical spectrum of the patient with hypotrichosis associated with juvenile macular dystrophy. A, Sparse hair in the proband at age 48 years. B, Color fundus photograph showing macular degeneration. C, Color fundus photograph of the same eye showing degeneration confined to the macular and peripapillary regions, sparing the mid and peripheral retina. D, Left visual field showing extensive central scotoma (the findings are similar in the right eye).
Figure 2. Mutation screening. A, Schematic diagram of the genomic structure of CDH3. Boxes indicate exons; lines, introns; and bp, base pairs. All are to scale except for regions of intronic DNA larger than 1 kilobase, which are represented as slashed lines. Exon and intron sizes are marked, as are the start and stop codons. The exons encoding the calcium-binding domains are shaded blue. B, Sequence of the deletion break point showing intron 11 spliced directly to intron 13 (not present in the Database of Genomic Variants). C, Expression of CDH3 in lymphocytes from the patient and a control by reverse transcription–polymerase chain reaction amplification of RNA using gene-specific primers spanning the junctions of exons 10 and 11 (forward) and 14 and 15 (reverse); human retinal complementary DNA was used as a control. The wild-type fragment should be 729 bp; the fragment amplified from the patient is 297 bp, lacking the 432 bp from exons 12 and 13. Lane 1 is the marker; 2, patient with reverse transcriptase; 3, patient without reverse transcriptase; 4, control with reverse transcriptase; 5, control without reverse transcriptase; 6, human retinal complementary DNA; 7, human genomic DNA; and 8, no-template control. D, Confirmation by sequence analysis. E, The domain structure of P-cadherin is represented diagrammatically. The protein consists of 5 extracellular calcium-binding domains (EC1-EC5), a transmembrane region, and a short intracellular tail that binds to β-catenin. The predicted mutant protein missing EC4, EC5, and part of the transmembrane domain is shown below.
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
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