Table 2 Compilation of reported cases with microcephaly according to geographic origin, clinical findings, and CENPJ genotypes; SD = standard deviation, NA = not available information, and NR = not reported in the patient.
Family origin | Clinical findings | Variant in CENPJ | Number of cases reported/described | Ages reported | Zygosity | Reference | ||
|---|---|---|---|---|---|---|---|---|
Reduced head circumference | Intellectual disability | Other features | ||||||
Pakistani | Yes | NA | Sloping forehead | c.18delC | 3 | NA | Homozygous | Bond et al.9 (and reference therein, Leal et al., 2003) |
p.(Ser7Profs*2) | ||||||||
Pakistani | Yes | NA | Sloping forehead | c.18delC | 4 | NA | Homozygous | |
p.(Ser7Profs*2) | ||||||||
Brazilian | Below −7 SD | Moderate | NR | c.3704 A > T | 7 | 4–27 years | Homozygous | |
p.(Glu1235Val) | ||||||||
Pakistani | Below −3 SD | Moderate to severe | Unable to read or write, could not speak simple phrases, and lack of self-care skills | c. 3243_3246delTCAG p.(Ser1081Argfs*8) | 3 | 8–13 years | Homozygous | Gul et al.10 |
Iranian | Below −4 SD | Severe (IQ 60) | Facial dysmorphism (small ears, hypertelorism, notched nasal tip, and strabismus), joint stiffness (ankles), wheelchair bound, finger deformities, and seizure | c.2462 C > T p.(Thr821Met) | 2 | NA | Homozygous | Darvish et al.20 |
Southern Saudi Arabia | −7 SD | One member with intellectual disability | Seckel phenotype, intrauterine growth retardation, receding chin, high forehead, prominent nasal spine, hypoplastic alae nasi, low-set ears, 11 ribs, and steep acetabular roof | c. 3302-1 G > C | 5 | 1–16 years | Homozygous | Al-Dosari et al.11 |
Pakistani | −8 to −12 SD | Yes | No obvious dysmorphic features, unable to speak, read, or write | c.18delC | 3 | 7–18 years | Homozygous | Hussain et al.8 |
p.(Ser7Profs*2) | ||||||||
Pakistani | −10 to −12 SD | Yes | No obvious dysmorphic features | c.18delC | 3 | 18–23 years | Homozygous | |
p.(Ser7Profs*2) | ||||||||
Pakistani | −10 to −17 SD | Yes | No obvious dysmorphic features, friendly behavior, poor self-care skills, unable to read, and write | c.18delC p.(Ser7Profs*2) | 4 | 10–30 years | Homozygous | |
Turkish | NR | NR | Arthrogryposis: contractures of elbows, ulnar deviation of hands, talipes equinovarus; retromicrognathia, high-arched palate, crowded and decayed teeth, low-set ears, delayed bone age, abnormal wound healing, and normal growth parameters (no microcephaly) | c.763 A > G p.(Thr255Ala) | 1 | NA | Homozygous (reported as nonconsanguinity) | Bayram et al.12 |
Argentinian | Below −5 SD | Moderate to severe | Learning problems, height −1.63 SD (mean parental height +0.24 SD), corpus callosum hypoplasia, bilateral migration disorder with heterotopia of the Sylvian fissure and colpocephaly | c.289dupA (p. Thr97AsnfsTer7) and c.1132 C > T (p.Arg378Ter) | 1 | 20 | Compound heterozygous | This work |
