Table 3.

Genes of Interest in the Differential Diagnosis of SALL4-Related Disorders

Gene(s) 1DisorderMOIOverlapping Clinical FeaturesComment / Distinguishing Features
TBX5 TBX5-related Holt-Oram syndrome (TBX5-HOS)ADUpper-limb malformations (radial, thenar, or carpal bones); CHD (ostium secundum ASD, VSD, esp those occurring in muscular trabeculated septum, & cardiac conduction defects)Preaxial polydactyly is almost exclusively assoc w/SALL4-RD. In TBX5-HOS ASD may be more common than VSD, whereas the opposite may apply for SALL4-RD. Cardiac conduction defects are observed less commonly in SALL4-RD than in TBX5-HOS. Persons w/typical radial ray malformations & renal or urogenital malformation (esp position anomalies of kidneys) but w/o Duane anomaly are more likely to have SALL4-RD than TBX5-HOS.
SALL1 Townes-Brocks syndrome (TBS)ADDysplastic ears, imperforate anus, & triphalangeal thumbs / preaxial polydactylyRadial aplasia has not been observed in TBS.
RBM8A Thrombocytopenia absent radius (TAR) syndrome ARBilateral absence of radii; other skeletal, cardiac, & GI anomaliesIn TAR syndrome: thumbs are never absent but may appear malformed; thrombocytopenia is generally transient.
BRCA1
BRCA2
BRIP1
ERCC4
FAAP100
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
MAD2L2
PALB2
RAD51
RAD51C
RFWD3
SLX4
UBE2T
XRCC2 		Fanconi anemia (FA)AR
AD
XL 2		Radial ray malformations; other skeletal, cardiac, & GI anomaliesIn FA: progressive bone marrow failure, cancer susceptibility, DD/ID
In SALL4-RD: Duane anomaly

AD = autosomal dominant; AR = autosomal recessive; ASD = atrial septal defect; CHD = congenital heart defect; DD = developmental delay; ID = intellectual delay; MOI = mode of inheritance; SALL4-RD = SALL4-related disorders; VSD = ventricular septal defect; XL = X-linked

1.

Genes are ordered by relevance to the differential diagnosis of SALL4-related disorders.

2.

Fanconi anemia (FA) can be inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA).

From: SALL4-Related Disorders

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