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Table 3 Confirmed genetic diseases by WES, n = 17

From: Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Gene (Isoform) Variants (PMID) Diagnosis (MIM) Comments
X-Linked Inheritance
PAK3 (NM_002578) c.1279 T > C (p.Y427H) MRX30 (300558) Intellectual disabilities, macrocephaly, obesity.
Autosomal Dominant Inheritance
BRAF (NM_004333) c.1914 T > G (p.D638E) (19206169) CFC1 (115150) Cortical blindness, seizures, stridor, constipation and developmental delay.
DYNC1H1 (NM_001376) c.10973G > A (p.G3658E) MRD13 (614563) Developmental regression, seizure, microcephaly, cataract, lissencephaly, pachygyria, grey matter heterotopia, hypoplasia of the corpus callosum.
ARID1B (NM_020732) c.4870C > T (p.R1624X) (a) Coffin-Siris (135900) Mucopolysaccharidosis suspected clinically.
ARID1B (NM_020732) c.3689 + 1G > C Coffin-Siris (135900) Global developmental delay, failure to thrive, acute encephalopathy with hypoglycemia and metabolic acidosis.
MYBPC3 (NM_000256) c.776delinsTT (p.A259fs) CMD1MM (615396) Dilated cardiomyopathy.
Autosomal Recessive Inheritance
SNX10 (NM_001199835) c.112-1G > C OPTB8 (615085) Central hypotonia, optic atrophy, osteopetrosis, pulmonary hypoplasia, hyperpigmented macules.
TRAPPC11 (NM_199053) c.2938G > A (p.G980R) (23830518) LGMD2S (615356) Developmental delay, head nodding, hypotonia, ↑CPK, ↑plasma phenylalanine, normal CSF neurotransmitters. Homozygous c.362 T > C (p.I121T) variant in COQ9 (normal muscle coenzyme Q10 activity).
PCSK1 (NM_000439) c.1312C > T (p.R438X) Proprotein convertase 1/3 deficiency (600955) Brain hemorrhage, congenital diarrhea.
ERCC5 (NM_000123) c.205C > T (p.R69X)(a) Cockayne (278780) Hypotonia, developmental delay and seizure. Clinically suspected to have MLCD.
AHI1 (NM_017651) c.1051C > T (p.R351X) (15322546) Joubert syndrome-3 (608629) Intellectual disability, hypotonia, repetitive hand movements, brain atrophy.
PRX (NM_181882) c.1090C > T (p.R364X) (21741241) Dejerine-Sottas (145900) Abnormal gait, hearing loss, loss of dexterity in hands, scoliosis.
TREX1 (NM_003629) c.341G > A (p.R114H) (21270825) RVCL (192315) Cognitive impairment, hypotonia, joint contracture, glaucoma, brain atrophy, sibling died with the same features.
DOK7 (NM_173660) c.1124_1127dup (p.A378fs) & c.1457dup (p.A487fs) (16917026) Myasthenia, limb-girdle (254300) Hypotonia, myopathic changes in proximal muscles.
ADD3 (NM_016824) c.1100G > A (p.G367D) (23836506) Adducin-gamma (601568) Developmental delay, central hypotonia and peripheral spasticity, cortical brain atrophy, delayed myelination of white matter.
RECQL4 (NM_004260) c.1000G > T (p.E334X)(a) RTS (268400) Premature, intrauterine growth retardation, dry skin, clinically suspected to have MOPD2.
IKBKB (NM_001556) c.849G > A (p.W283X)(a) IMD15 (615592) Failure to thrive, recurrent infections, two sibling died with the same presentation.
  1. (a) Novel mutation. All mutations are homozygous, except those in Italics which are heterozygous. Variants in bold are de novo pathologic mutations. PMID,PubMed Identifier, MIM Mendelian Inheritance in Man, MRX30 mental retardation, X-linked 30, CFC1 cardiofaciocutaneous syndrome 1, MRD13 mental retardation, autosomal dominant 13, CMD1MM cardiomyopathy, dilated, 1MM; OPTB8 osteopetrosis, autosomal recessive 8; LGMD2S muscular dystrophy, limb-girdle, type 2S, MLCD microcephaly-lymphedema chorioretinal dysplasia syndrome, RVCL vasculopathy, retinal, with cerebral leukodystrophy; isolated, RTS Rothmund-Thomson syndrome, MOPD2, Microcephalic osteodysplastic primordial dwarfism, type II, IMD15 Immunodeficiency 15