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Table 1 Phenotypic comparison of both siblings to literature

From: Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Clinical feature (HPO id) Index case Affected brother Findings in 25 previously reported cases [1, 3, 4, 6, 15]
Consanguinity Y Y 13/22 (59%)
IUGR (HP:0001511) Y Y 23/25 (92%)
Preterm <37 wk (HP:0001622) Y N 12/25 (48%)
Dysmorphism
 Prominent forehead (HP:0011220) Y Y 20/20 (100%)
 Hypertelorism (HP:0000316) N N 20/20 (100%)
 Hypo/pigmented skin rash +/− erythroderma Y Y 6/20 (30%)
 Unusual hair (Includes trichorrhexis nodosa, HP:0009886) Unknown (shaved) Y (‘sticking out’) 20/20 (100%)
 Congenital heart defect (Abnormal heart morphology, HP:0001627) N N 5/20 (25%)
 Musculoskelelal abnormality (Camptodactyly HP:0005617) N Y (camptodactyly) 1/12 (8%; Perthes disease)
 Urinary tract abnormality (Hypospadias, HP:0000047) N Y (hypospadias) 3/20 (15%)
Gastrointestinal
 Chronic diarrhea (HP:0002028) N Y 24/25 (96%)
 Failure to thrive (HP:0001508) Y Y (needed TPN) 25/25 (100%)
 Villous atrophy on biopsy of small intestine (HP:0011473) - Y (patchy) 21/21 (100%)
 Liver dysfunction or fibrosis N N 9/17 (53%, all with liver fibrosis)
Outcome
 Neurodevelopmental delay (HP:0012758) ? Y 10/16 (63%)
 Death Y Y 12/25 (48%)
 If deceased, age at death 3 months 5 months 2-96 months
Immunological investigations {reference range}
 Lymphocyte count 2.53 {2.0–17.0 × 109/l} 4.17 {2.0–17.0 × 109/l} Where reported was normal
 % B-cells (CD19) 24% {19–31%} 20% {19–31%}  
 % T-cells (CD3) 73% {58–67%} 72% {58–67%} Weak T-cell proliferative response in some cases to antigens, not mitogens
 % T-helper cells (CD4) 55% {38–50%} 39% {38–50%}  
 % T-supressor cells (CD8) 16% {18–25%} 33% {18–25%}  
 % Natural killer cells (CD16, 56) (Abnormality of NK cells HP:0012176) 3% {8–17%} 8% {8–17%}  
 IgG level (IgG deficiency HP: 0004315) <1.41 g/l {3.0–10.0 g/l} 1.96 g/l {3.0–10.0 g/l} 11/20 (55%) had ‘low immunoglobulins’. Other often had deficient vaccine response. Hence THE-S now in antibody deficiency group of the 2015 IUIS Primary Immunodeficiency classification
 IgA level (IgA deficiency HP:0002720) 0.44 g/l {0.1–0.7 g/l} <0.25 g/l {0.1–0.7 g/l}
 IgM level 0.92 g/l {0.2–1.10 g/l} 1.19 g/l {0.2–1.10 g/l}
  1. HPO id human phenotype ontology identification number, Y Yes, N No, TPN total parenteral nutrition, NK natural killer, IUGR intrauterine growth restriction, IUIS International Union of Immunological Societies
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