Table 1 OMIM genes deleted in our patient, with related phenotypes and model of inheritance
From: Neurological features of 14q24-q32 interstitial deletion: report of a new case
Gene | OMIM | Phenotype | Inheritance |
|---|---|---|---|
DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
VSX2 | 142993 | Microphthalmia with coloboma; | AR |
Microphthalmia, isolated 2 | |||
LTBP2 | 602091 | Glaucoma 3, primary congenital, D; | AR |
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; | |||
Weill-Marchesani syndrome 3, recessive | |||
EIF2B2 | 606454 | Leukoencephalopathy with vanishing white matter; | AR |
Ovarioleukodystrophy | |||
MLH3 | 604395 | Colorectal cancer, hereditary nonpolyposis, type 7; | AD |
Colorectal cancer, somatic | |||
FLVCR2 | 610865 | Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome | AR |
TGFB3 | 190230 | Rienhoff syndrome; | AD |
Arrhythmogenic right ventricular dysplasia 1 | |||
IFT43 | 614068 | Cranioectodermal dysplasia 3 | AR |
ESRRB | 602167 | Deafness, autosomal recessive 35 | AR |
POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; | AR |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; | |||
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | |||
VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type IC | AD |
NPC2 | 601015 | Niemann-Pick disease, type C2 | AR |