Table 2

Individuals with established mutations and phenotypic extension diagnosed through exome sequencing

Patient
ID
Gene(Chr:position)c.DNA change p.protein changeCoding effectCADD scoreCDPred scoreGnomADClinPred
Score
Age at diagnosis (y):SexPhenotype
(MIM#)
S.16CYP27A1(2:219 678 909)NM_000784.3:c1183C>T p.Arg395CysHom.20.2−140.00028310.6033:FChildhood-onset facial dysmorphism and skeletal anomalies; juvenile-onset cataracts, cognitive decline, neuropathy.
CTX (213700)
F.2.1; F.2.2DOK7(4:3 494 837_3 494 840)NM_173660.5:c.1124_1127dupTGCC p.Ala378Serfs*30Hom.N/AN/A0N/A56:M;52:MJuvenile-onset steroid-responsive biceps weakness; milder limb-girdle weakness in brothers
CMS10 (254300)
F.1.1; F.1.2GBE1(3:81 691 938)NM_000158.3:c.986A>C p.Tyr329Ser; GBE1(3:81 542 964_81 542 972)NM_000158.3:c.2053–3358_2053- 3350delinsTGTTTTTTACATTACAGGT p.Tyr686Serfs*3Comp. Het.22;N/A−11;N/A0.000318;00.94;N/A46:M;44:FAdult-onset optic neuropathy, deafness, neuropathy, and white matter T2w hyperintensities in brother and sister.
APBD (263570)
F.4.1; F.4.2GSN
(9:124 073 097)NM_000177.4:c.640G>T p.Asp214Tyr
Het.22.2−1000.9970:F; 47:MLate-onset disease; bifacial weakness; lattice corneal dystrophy absent.
Amyloidosis (105120)
  • APBD, adult polyglucosan body disease; N/A, not applicable.