Table 2

Clinical description of previously reported males carrying KIAA2022 mutations

FamilyFamily 112Family 22Family 32Family 42Family 53Family 63
Patient12345678910
Age (years)132064814104035
MutationInvXInvXSer1200fsSer1200fsExon 1 dupArg62fsArg62fsArg62fsGln705*Arg322*
XCIn.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.n.a.
KIAA2022 expressionAbsentAbsent??40%?????
Walking age (months)36363448171818,51448
Language skillsAbsentAbsentRudimentaryAbsentRudimentaryDelayedPoorPoorAbsentAbsent
ID++++++++++
Degree of ID+++++++++/−++++++++
Age first notice of delay (months)0–120–120–120–12???360–123
Autistic behaviour+++++++
Other neurobehavioural problemsSelf-biting hyperactiveAggressive anxiety+Hyperactive attention-deficitAggressive, attention-deficit, hyperactiveHyperactive
Seizures+++++
Syndrome diagnosisLennox–Gastaut
Neurological examHypotoniaSpastic quadriplegiaAxial hypotonia, lower limb spasticityHypotonia, lower limb spasticityNormalNormalNormalNormalHypotoniaHypotonia
Growth retardation, prenatal
Growth retardation, postnatal++++++
Obesity++
Microcephaly++++
Dysmorphisms++++?++
Joint laxity?
Hypotonia++++?++
Additional medical problemsGERGER, gastric ulcerGERGER gastrostomyBulimiaGERBulimiaGERNephrotic syndrome, central hypothyroidism
MRI brainSmall brain, mild enlargement of sulci in frontal lobesModerate brain atrophy??NormalNormalNormal?NormalNormal
  • If features are not described in the original article, we assume they are not present. Note that more details on the female phenotypes were available in some cases.

  • −, absent; +/−, mild; +, moderate; ++, severe; ?, unknown. GER, gastroeosophageal reflux; ID, intellectual disability; IDDM, insulin-dependent diabetes mellitus; n.a., not applicable; PFO, patent foramen ovale; XCI, X-chromosome inactivation.