case_images: PMC11765327_01
case_images: Family pedigree with three generations depicted. Circles indicate women and squares men. Black circles and squares indicate individuals with pediatric cataracts. Stars indicate family members evaluated in the current study. +: presence of variant c.3333del (p.Phe1111Leufs*9) in NHS gene located in X chromosome, -: wild type.
case_images: genes-16-00091-g002.jpg
case_images: PMC11765327_02_genes-16-00091-g002.jpg
case_images: genes-16-00091-f002
case_images: The mother (Figure 2, individual I:2), aged 45 years, was diagnosed with congenital cataracts at 1 month old and underwent surgery at 4.
case_images: External features of Nance-Horan syndrome patients: (a) Bilateral clear corneas, microcornea, and strabismus in male II:3 (b) Bulbous nose, bilateral microcornea with clear right cornea and right opacity in male II:5 (c) Bulbous nose, bilateral microcornea with opaque corneas in female individual I:2.
case_images: genes-16-00091-g003.jpg
case_images: PMC11765327_02_genes-16-00091-g003.jpg
case_images: genes-16-00091-f003
case_images: Currently, she has total bilateral corneal opacities (Figure 3c), with both the anterior chamber and fundoscopy being unobservable.
case_images: Teeth alterations in Nance-Horan syndrome: (a) Screwdriver-shaped incisors and diastema in individual II:3; (b) screwdriver-shaped lateral incisors and diastema in individual II:5.
case_images: genes-16-00091-g005.jpg
case_images: PMC11765327_02_genes-16-00091-g005.jpg
case_images: genes-16-00091-f005
case_images: A search for dental anomalies was then made, and these were discovered in both affected males, II:3 (Figure 5a) and II:5 (Figure 5b), but not the unaffected daughter (II:4).
case_images: PMC11765327_02
case_images: Family pedigree with three generations depicted. Circles indicate women and squares men. Black circles and squares indicate individuals with pediatric cataracts. Stars indicate family members evaluated in the current study. +: presence of variant c.3333del (p.Phe1111Leufs*9) in NHS gene located in X chromosome, -: wild type.
case_images: genes-16-00091-g002.jpg
case_images: PMC11765327_02_genes-16-00091-g002.jpg
case_images: genes-16-00091-f002
case_images: The mother (Figure 2, individual I:2), aged 45 years, was diagnosed with congenital cataracts at 1 month old and underwent surgery at 4.
case_images: External features of Nance-Horan syndrome patients: (a) Bilateral clear corneas, microcornea, and strabismus in male II:3 (b) Bulbous nose, bilateral microcornea with clear right cornea and right opacity in male II:5 (c) Bulbous nose, bilateral microcornea with opaque corneas in female individual I:2.
case_images: genes-16-00091-g003.jpg
case_images: PMC11765327_02_genes-16-00091-g003.jpg
case_images: genes-16-00091-f003
case_images: Currently, she has total bilateral corneal opacities (Figure 3c), with both the anterior chamber and fundoscopy being unobservable.
case_images: Sanger sequencing results confirm the presence of novel variant c.3333del (p.Phe1111Leufs*9) in the NHS gene located on the X chromosome in all family members identified previously by next-generation sequencing. Red arrows point to the location of variant in affected individuals.
case_images: genes-16-00091-g004.jpg
case_images: PMC11765327_02_genes-16-00091-g004.jpg
case_images: genes-16-00091-f004
case_images: Teeth alterations in Nance-Horan syndrome: (a) Screwdriver-shaped incisors and diastema in individual II:3; (b) screwdriver-shaped lateral incisors and diastema in individual II:5.
case_images: genes-16-00091-g005.jpg
case_images: PMC11765327_02_genes-16-00091-g005.jpg
case_images: genes-16-00091-f005
case_images: A search for dental anomalies was then made, and these were discovered in both affected males, II:3 (Figure 5a) and II:5 (Figure 5b), but not the unaffected daughter (II:4).