Table 1 Summary of the patients with neurodevelopmental disorder and heterozygous variants in CDK8.

From: Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

 

Patient 1

Patient 2

Calpena et al.6

14 patients with CDK8 variants

Variants in CDK8

c.83G > C (p.Gly28Ala)

c.467A > G (p.Asn156Ser)

c.79G > C (p.Val27Leu)

c.85C > G (p.Arg29gly)

c.88G > A (p.Gly30Ser)

c.185C > T (p.Ser62Leu) × 5

c.291T > G (p.Phe97Leu)

c.533G > A (p.Arg178Gln)

c.578T > G (p.Val193Gly)

c.669A > G (p.Ile223Met)

All 14 mutations were missense

Sex

Male

Female

7 males and 5 females

Male: 8, Female: 6

Developmental delay

Severe

Moderate

9/12

11/14

Intellectual disability

Severe

Moderate (WISC-IV IQ = 52)

11/12

13/14

Short stature

Present

Present

1/12

3/14

Hypotonia

Present

Present

9/11

11/13 (1 was not available)

Head and necks

Agenesis of corpus callosum

No abnormalities

Abnormality of corpus callosum: 4/9 (among 9 available patients)

Abnormality of corpus callosum: 5/11 (3 were not available)

Congenital heart disorders

DORV, mitral valve stenosis

Absent

Present: 6/10

7/12 (2 were not available)

Facial dysmorphology

Prominent forehead with large anterior fontanelle, arched eyebrow, hypertelorism, epicanthal folds, low set ears, prominent antihelix, a short philtrum, broad nasal root, a flat nasal bridge, a high arched palate, down turned corners of mouth, micrognathia

Arched eyebrow, ptosis, hypertelorism, epicanthal folds, broad nasal root, anteverted nares, a wide nasal bridge, protruding ears, bified uvula, micrognathia

Arched eyebrow (3/12), epicentral folds (4/12), ptosis (5/12), anteverted nares (3/12), broad nasal root (3/12), micrognathia (4/12)

Arched eyebrow (5/14), ptosis (5/14), epicanthal folds (6/14), broad nasal root (5/14), anteverted nares (5/14), micrognathia 6/14)

Behavioral/psychiatric manifestations

Absent

Tantrum, agitation, emotional incontinence, attention deficit-hyperactivity disorder (ADHD)

ADHD: 4/10, autism spectrum disorder: 5/10

ADHD: 5/12 (2 were not available)

Eye/vision

Myopia

Intermittent esotropia

Myopia: 5/12

Myopia (6/14)

Gastrointestinal problems

Gastroesophageal reflux disorder (GERD)

Absent

GERD: 3/12

GERD (4/14)

Urogenital problems

Left multicystic dysplastic kidney

Absent

0/12

1/14

Limbs

Absent

Pes planovalgus

Pes planovalgus: 2/12

3/14

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