Table 4.

Genes of Interest in the Differential Diagnosis of Cantú Syndrome

Gene(s) / Genetic MechanismDisorderMOIFeatures of This Disorder
Overlapping w/Cantú SyndromeDistinguishing from Cantú Syndrome
Abnormal methylation at 11p15.5
CDKN1C 1		 Beckwith-Wiedemann syndrome Variable 2Neonatal macrosomia; coarse facial features w/macroglossia; umbilical herniaNeonatal hypoglycemia, & hyperinsulinism; ear pits & creases; omphalocele; hemihypertrophy; abdominal tumors in childhood (Wilms tumor, hepatoblastoma)
ATP6V1B2
KCNH1
KCNN3 		Zimmermann-Laband syndrome (OMIM PS135500)ADHypertrichosis; coarse facial features; full lips; macrosomia at birth; PDA; aortic root dilatation; scoliosis; hypotoniaGingival hyperplasia or fibromatosis; bulbous nose; distal phalangeal hypoplasia; hypo/aplastic nails; hepatosplenomegaly; seizures; severe ID/DD in some persons
AGPAT2
BSCL2 		Berardinelli-Seip congenital lipodystrophy ARMuscular build w/↓ subcutaneous fat in assoc w/cardiomegalyInsulin resistance; diabetes mellitus; hepatomegaly & hepatic steatosis; hypertrophy of skeletal muscles; hypertrophic cardiomyopathy different from cardiac involvement in Cantú syndrome
ANKRD1
BAG3
LMNA
MYBPC3
MYH6
MYH7
SCN5A
TNNT2
TTN
(~30 genes) 3		 Dilated cardiomyopathy ADCardiomegalyAbsence of noncardiac findings
(Note: Persons w/Cantú syndrome have normal ventricular wall thickness & normal or enhanced myocardial function [despite enlargement of cardiac chambers] & high cardiac output.)
MYBPC3
MYH7
TNNI3
TNNT2
(~30 genes) 4		 Hypertrophic cardiomyopathy AD
KCNK4 FHEIG syndrome (Bauer-Tartaglia syndrome) (OMIM 618381)ADHypertrichosis; coarse facial features; thick scalp hair; large mouth; hypotoniaOcular abnormalities (e.g. nystagmus & optic nerve hypoplasia); severe gingival hyperplasia; brachydactyly; ID/DD; epilepsy; lack of cardiac manifestations
GALNS MPS IVA (Morquio syndrome type A)ARCoarse facial features & hirsutism; some skeletal radiologic features (e.g., thickening of ribs)Flexion contractures; progressively worsening skeletal changes over time; progressive ID & neurologic deterioration in some persons; hepatomegaly & splenomegaly
GNPTAB Mucolipidosis III α/β (See GNPTAB Disorders.)AR
GNPTG Mucolipidosis III gamma AR
IDS MPS II (Hunter syndrome)XL
IDUA Severe MPS IAR
MAN2B1 Alpha-mannosidosis AR

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; FHEIG syndrome = facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome; ID = intellectual disability; MOI = mode of inheritance; MPS = mucopolysaccharidosis; PDA = patent ductus arteriosus; XL = X-linked

1.

Beckwith-Wiedemann syndrome (BWS) is caused by an epigenetic or genomic alteration leading to abnormal methylation at 11p15.5 or a heterozygous BWS-causing pathogenic variant in CDKN1C.

2.

The risk to the sibs of a child with BWS depends on the genetic basis for BWS in the proband.

3.

Pathogenic variants in ANKRD1, BAG3, LMNA, MYBPC3, MYH6, MYH7, SCN5A, TNNT2, and TTN account for about one third of nonsyndromic dilated cardiomyopathy (DCM); about 30 genes are known to be associated with nonsyndromic DCM (see Dilated Cardiomyopathy Overview).

4.

Pathogenic variants in MYBPC3, MYH7, TNNI3, and TNNT2 account for more than 90% of nonsyndromic hypertrophic cardiomyopathy (HCM); about 30 genes are known to be associated with nonsyndromic HCM (see Hypertrophic Cardiomyopathy Overview).

From: Cantú Syndrome

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