Skip to main content

Advertisement

Table 1 Genes important for clinical phenotype of the patient from OMIM database

From: Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex

  Name MIM Chr Phenotype Clinical synopsis
LAMB3 laminin subunit beta 3 150310 1q32.2 mutation: Junctional Epidermolysis Bullosa, Herlitz Type and Non-Herlitz Type; Amelogenesis imperfecta, type IA Junctional Epidermolysis – autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane, Herlitz type is more severe than Non-Herlitz type and often results in early death; Amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness
G0S2 G0/G1 switch 2 614447 1q32.2 ?Van der Woude syndrome (VWS) VWS is dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP)
IRF6 interferon regulatory factor 6 607199 1q32.2 mutation: Van der Woude syndrome; Popliteal pterygium syndrome 1 (PPS); Orofacial cleft 6 VWS is dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP); PPS has a highly variable clinical presentation including orofacial, cutaneous, musculoskeletal, and genital anomalies; Orofacial cleft 6 is nonsyndromic cleft lip with or without cleft palate
RD3 retinal degeneration 3 180040 1q32.2 mutation: Leber congenital amaurosis 12 early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction
NEK2 NIMA-related kinase 2 604043 1q32.2 ?retinitis pigmentosa 67; ?Van der Woude syndrome hereditary retinal conditions in which degeneration of rod photoreceptors is more pronounced than that of cone photoreceptors
KCNH1a potassium channel, voltage gated eag related subfamily H, member 1 603305 1q32.2 Zimmermann-Laband syndrome 1 Temple-Baraitser syndrome Zimmermann-Laband - rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, abnormalities of the cartilage of the nose and/or ears and developmental delay Temple-Baraitser syndrome - rare developmental disorder, severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails.
  1. aKCNH1 gene is also in group with genes enriched in human brain (see Fig. 5)