Table 3.

Genes of Interest in the Differential Diagnosis of PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

GeneDiffDx DisorderMOIClinical Features of DiffDx Disorder
Overlapping w/PPP1R12A-related UBMSDistinguishing from PPP1R12A-related UBMS
Conditions w/genitourinary abnormalities
AR Androgen insensitivity syndrome XLGU abnormalities & sex reversalLack of multiple malformation & DD/ID
ATRX Alpha-thalassemia X-linked intellectual disability syndrome XLGU malformation incl abnormal genitalia & sex reversalDistinctive craniofacial features; mild anemia secondary to alpha-thalassemia
WT1 Denys-Drash syndrome (See WT1 Disorder.)ADGU malformation incl ambiguous genitalia & müllerian structures on ultrasoundDiffuse mesangial sclerosis on renal biopsy; Wilms tumor; lack of DD/ID
CDKN1C IMAGe syndrome ADIUGR; GU abnormalities (males)Adrenal hypoplasia congenita; metaphyseal dysplasia
Conditions w/genitourinary abnormalities & brain malformations
DHCR7 Smith-Lemli-Opitz syndrome ARHypospadias; ambiguous genitalia; 2-3 toe syndactyly; microcephaly; holoprosencephaly; IUGR/short statureCharacteristic facial features (narrow forehead, epicanthal folds, ptosis, short mandible w/preservation of jaw width, short nose, anteverted nares, & low-set ears); postaxial polydactyly; cleft palate
ARX X-linked lissencephaly w/ambiguous genitalia (OMIM 300215)XLGU malformation incl ambiguous genitalia; brain malformations incl cortical malformation & corpus callosum abnormalitiesPerinatal encephalopathy w/intractable seizures; lissencephaly a predominant finding; chronic diarrhea; high male lethality in 1st 3 mos of life
RAB18 Warburg micro syndrome (OMIM 614222)ARGU malformation incl hypogonadism; microcephaly; corpus callosum abnormalitiesOphthalmologic abnormalities incl congenital cataracts, atonic pupils, optic nerve atrophy, microphthalmia, microcornea

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; DiffDx = differential diagnosis; GU = genitourinary; ID = intellectual disability; IUGR = intrauterine growth restriction; MOI = mode of inheritance; XL = X-linked

From: PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

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