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Table 1 Known disease genes with phenotypic expansion

From: Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Family ID Gene Variant Zyg Clinical features of patients MIM Phenotypic expansion
037 BAB6843 MYO5A NM_000259.3:c.4200C > G:p.Ser1400Arg Hom DD, seizures, cerebellar atrophy, nystagmus, dystonia 214450 Lacks classical Griscelli syndrome phenotype of skin hypopigmentation and silver-grey hair
019 BAB6938 ANKRD11 NM_013275.5:c.5317G > T:p.E1773* Het DD/ID, hypotonia, esotropia, hyperopia, astigmatism, broad nasal bridge, hypertelorism, epicanthal folds, retrognathia, cryptorchidism 148050 Hypotonia, esotropia, hyperopia, astigmatism
022 BAB6787 KIAA0226 NM_014687.2:c.1642A > G:p.Thr548Ala Hom DD/ID, hypotonia, diffuse cortical hypomyelination, contractures of elbows and knees, nystagmus 615705 Hypotonia, contractures, lacks cerebellar atrophy
NM_014687.2:c.319G > A:p.Glu107Lys Hom
024 BAB6793 C12ORF57 NM_138425.3:c.53-2A > G Hom DD/ID, ADHD, bilateral hydronephrosis and VUR, atrophic non-functioning left kidney 218340 Vesicoureteric reflux and bilateral hydronephrosis, small non-functioning left kidney
034 BAB6835 VPS13B NM_152564.4:c.1219C > T:p.Gln407* Hom DD/ID, ADHD, microcephaly, hypotonia, joint hyperlaxity, unsteady gait, severe dental caries 216550 Autistic behavior, unsteady gait, severe dental caries
026 BAB7039 ATP2B3 NM_001001344.2:c.3594G > T:p.Lys1198Asn Hem DD/ID, microcephaly, abnormal cortical pattern, hypotonia and muscle atrophy, oropharyngeal dysphagia, dental caries 302500 Microcephaly, abnormal cortical pattern, muscle atrophy, oropharyngeal dysphagia
  1. DD/ID developmental delay/intellectual disability, ADHD attention deficit hyperactivity disorder, VUR Vesicoureteral Reflux, Hom homozygous, Het heterozygous, Hem hemizygous; * stopgain