Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report

Table 1 Cases of mosaic KBG phenotype reported in the literature

Ref.	Sex and age	Molecular analysis	% mosaicism	Phenotype	Phenotype in relative with the same non-mosaic mutation
Our case	2 yr	Deletion (c.4880_4893del.)	36	Short stature, hand abnormalities, facial dysmorphism, mild developmental delay	-
Khalifa et al[5], 2013	Female, 31 yr (mother)	Microdeletion 16q24.3	38	Round face, brachycephaly, macrodontia, abnormal dentition with malposition and extra teeth, brachydactyly, postaxial polydactyly, partial syndactyly between the 2nd and 3rd toes, short stature, learning difficulty	Female, 11 yr, Multiple congenital abnormalities including patent foramen ovale, umbilical hernia, hypospadias with chordee, penile-scrotal fusion, intestinal malrotation, chronic interstitial pulmonary disease, febrile seizure, pharyngeal dysphagia, developmental delay, dysmorphic features (round face, epicanthic folds, hypertelorism, broad arched eyebrows with synophrys, a flat nasal bridge, and a relatively small nose with a bulbous tip), brachycephaly, short neck, macrodonzia, dental malocclusion, chronic otitis media, partial syndactyly between the 2nd and 3rd toes, delayed bone age
Crippa et al[6], 2015	NA (mother)	Microduplication 16q24.3 (chr16:89,350931–89439639, hg19)	5	Mild facial dysmorphisms, similar to those of her children, and a nasal voice	Male, 17 yr. Short, stature, moderate intellectual disability, facial dysmorphisms including long triangular face, frontal bossing, arched and bushy eyebrows with slight synophrys, large and prominent ears, broad and high nasal bridge with bulbous nasal tip, anteverted nares, long philtrum, macrodontia of central incisors, and a nasal voice, brachymetacarpia, third-degree vesicoureteral reflux	Female, 13 yr. Short, stature, moderate intellectual disability, facial dysmorphisms including long triangular face, frontal bossing, arched and bushy eyebrows, large and prominent ears, broad and high nasal bridge with bulbous nasal tip, anteverted nares, long philtrum, macrodontia of central incisors, and a nasal voice, brachymetacarpia, ureterocele associated with duplex pelvicalyceal district
Guo et al[7], 2022	Female, 30-35 yr (mother)	c.5227C>T	Only 2 out of 298 sequencing reads for this variant found in her blood	History of miscarriage, mild facial features, (e.g., synophrys, thick eyebrow, wide nasal bridge, prominent nasal tip) with speech delays and seizures in childhood	Male, 5-10 yr. More severe phenotypic features in comparison to the mother, history of seizures and concurrent speech and motor delays, mitral valve repair at around one year of age, abdominal migraines
		p. (Gln1743*)

NA: Not available.