Table 4.

Genes of Interest in the Differential Diagnosis of KAT6B Disorders

Gene(s)Differential Diagnosis DisorderMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/KAT6B DisordersNot Observed in KAT6B Disorders
CDC45
CDC6
CDT1
GMNN
ORC1
ORC4
ORC6 		Meier-Gorlin syndrome (OMIM PS224690)AR
(AD)		Patellar aplasia or hypoplasia; microcephaly; genital anomalies; contracturesSevere intrauterine & postnatal growth restriction; bilateral microtia
ERCC6
ERCC8 		Cerebrooculofacioskeletal syndrome (severe fetal form of Cockayne syndrome)ARArthrogryposis; microcephaly; severe IDProgressive neurodegenerative disorder; congenital cataracts & facial dysmorphism
FBN2 Congenital contractural arachnodactyly ADCongenital contracturesMarfanoid habitus; aortic root dilatation; arachnodactyly; hypoplastic calf muscles
FOXL2 Blepharophimosis, ptosis, epicanthus inversus syndrome 1AD 2Blepharophimosis & ptosisEpicanthus inversus (a fold of skin that runs from the lower lids inwards & upwards)
LMX1B Nail-patella syndrome ADAbsent patella; renal anomalies; flexion deformities of knees & hips, clubfootProteinuria; open-angle glaucoma; nail changes
RECQL4 RAPADILINO syndrome (OMIM 266280)ARPatellar hypoplasia; hearing loss; cleft palateIrregular pigmentation w/café au lait spots; normal intelligence; palate defects; radial ray defects; GI abnormalities
TBX4 Ischiocoxopodopatellar syndrome (OMIM 147891)ADPatellar aplasia or hypoplasiaAbsent, delayed, or irregular ossification of the ischiopubic junctions or infraacetabular axe-cut notches
ZEB2 Mowat-Wilson syndrome AD 3Agenesis of the corpus callosum; genital anomalies; ID; congenital heart disease; microcephalySeizures; Hirschsprung disease; short stature

AD = autosomal dominant; AR = autosomal recessive; GI = gastrointestinal; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

1.

Blepharophimosis, ptosis, epicanthus inversus syndrome type II is isolated; type I is associated with premature ovarian insufficiency.

2.

Blepharophimosis, ptosis, epicanthus inversus syndrome is usually inherited in an autosomal dominant manner; autosomal recessive inheritance has been reported in one consanguineous family.

3.

Mowat-Wilson syndrome is typically the result of a de novo dominant pathogenic variant.

From: KAT6B Disorders

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