Table 1 Summary of clinical and genetic findings of the patients affected with FUZ-related autosomal recessive disorder.
From: Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
Authors | Present study | Zhang et al. [4] | ||
|---|---|---|---|---|
Patient Id | P1 | P2 | R11-569 | R98-523A |
General characteristics | ||||
Age | 2 years 9 months | 19 weeks of gestational age | 24 weeks of gestational age | NA (alive) |
Gender | Female | ND | NA | NA |
Ethnicity | Indian | Indian | African American | Caucasian |
Consanguinity | + | − | − | NA |
Growth parameters | ||||
Weight (SD) | 10.5 kg (−2.24) | ND | NA | NA |
Height (SD) | 94 cm ( + 0.37) | ND | NA | NA |
Head circumference (SD) | 46 cm (−1.51) | ND | NA | NA |
Craniofacial features | ||||
Midline facial cleft | − | ND | + | NA |
Prominent forehead | + | ND | − | NA |
Medial flaring of the eyebrow | + | ND | − | NA |
Low set ears | + | ND | − | NA |
Prominent antihelix | + | ND | − | NA |
Cleft lip | − | + | − | NA |
Broad nasal bridge | + | ND | − | NA |
Skeletal findings | ||||
Short ribs | − | ND | + | NA |
Short and broad thumbs | + | ND | − | NA |
Clinodactyly of 5th fingers | + | ND | − | NA |
Polydactyly | + | − | + | + |
Preaxial polysyndactyly of the foot | + | + | − | NA |
Postaxial polysyndactyly of the foot | + | − | − | NA |
Cardiac anomalies/other findings | ||||
Thickened nuchal fold | − | − | + | NA |
Atrioventricular canal/ septal defect | + | + | + | NA |
Hypoplastic left ventricle | − | − | + | NA |
Hypoplastic kidneys | ND | ND | + | NA |
Molecular findings in FUZ | ||||
Nucleotide change (NM_025129.5) | c.601G>A | c.625_636del, c.601G>A | c.98_111+9del | c.851G>T |
Zygosity | Homozygous | Compound heterozygous | Homozygous | Heterozygous |
Amino acid change (NP_079405.2) | p.(Glu201Lys) | p.(Val209_Leu212del), p.(Glu201Lys) | − | p.(Arg284Leu) |
Exon | 6 | 6 | 1 | 6 |
Domain | 2 | 2 | 1 | 2 |
