Table 3.

WDR62 Primary Microcephaly: Frequency of Select Features by Cohort

FeatureCohort 1
[Ruaud et al 2022] 1		Cohort 2
Literature review 2
OFC17/17 372/137 4
Motor
development
  • Normal: 6/17 w/independent walking < age 18 mos
  • Delayed: 9/17 w/independent walking < age 3.5 yrs
  • Nonambulatory: 2/17 at age 16 yrs
44/60 walk independently (age: 2-29 yrs)
Language
development
  • Normal: 4/17
  • Delayed language w/speech disorders:11/17
  • No language: 2/17
44/59 able to talk (words to short sentences, age: 2-29 yrs)
IDMild3/11NA
Moderate4/112 individuals 5
Severe4/11NA
Epilepsy12/1741/109
BehaviorBehavior disorders: 10/16 6Behavior disorders: 21/24
  • Hyperkinesia: 4/21
  • Self-injury: 5/21
  • Aggressiveness: 15/21
  • Confusion: 2/21
Spasticity6/1715/29
Ataxia7/17 (congenital: 6/7, progressive: 1/7)1/29

ID = intellectual disability; NA = not available; OFC = occipitofrontal circumference

1.

Ruaud et al [2022] described 17 individuals from 14 families newly diagnosed with WDR62 primary microcephaly. The Cohort 1 column reports the number of affected individuals for each feature over the number of individuals for whom data for that feature are available.

2.

Ruaud et al [2022] compiled a comprehensive literature review [Bilgüvar et al 2010, Nicholas et al 2010, Yu et al 2010, Bhat et al 2011, Kousar et al 2011, Murdock et al 2011, Bacino et al 2012, Farag et al 2013, Memon et al 2013, Sajid Hussain et al 2013, McDonell et al 2014, Poulton et al 2014, Rupp et al 2014, Banerjee et al 2016, Bastaki et al 2016, Wang et al 2018, Miyamoto et al 2017, Naseer et al 2017, Sgourdou et al 2017, Cherkaoui Jaouad et al 2018, Kvarnung et al 2018, McSherry et al 2018, Nardello et al 2018, Naseer et al 2019, Yi et al 2019, Zombor et al 2019, Rasool et al 2020] consisting of 137 individuals from 59 families previously diagnosed with WDR62 primary microcephaly. The Cohort 2 column reports the number of affected individuals with each feature over the number of individuals for whom data for that feature are available.

3.

Defined as 4 standard deviations (SD) (±1.5 SD) below the mean at last examination (mean age: 12 years, 4 months)

4.

Defined as 6.3 SD (±2.4 SD) below the mean at last examination (mean age: 12 years, 10 months)

5.
6.

Including hyperkinesia, aggressiveness, hypersociability, poor concentration, and disinhibition

From: WDR62 Primary Microcephaly

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